(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015338.5 in the ASXL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027868.1, covering ASXL1 transcript NM_015338.5.
(upstream sequence)
. g.5012
cacacccacggc c.-421
. . . . . . g.5072
agacacgcacgcacccgggcgccgaagggaaagccgcgtctcgccctcccgccccgccgt c.-361
. . . . . . g.5132
cggtcctgtctcagtccctcagcagagcgggaaagcggaggccggagccgtgacctctga c.-301
. . . . . . g.5192
ccccgtggttatgcggagccgccgcattccttagcgatcgcggggcagccgccgctgccg c.-241
. . . . . . g.5252
ccgtgggcgactgacgcagcgcgggcgcgtggagccgccgccgcccctcccccaccgccg c.-181
. . . . . . g.5312
ctctcgcgccagccggtccccgcgtgcccgccccttctccccggccgcacccgagacctc c.-121
. . . . . . g.5372
gcgcgccgccgctgccacgcgccccccccaccgccgccgccgccccagccccgcgccacc c.-61
. . . . . . g.5432
gccccagcccgcccagcccggaggtcccgcgtggagctgccgccgccgccggggagaagg c.-1
. . . . . | 02. g.13043
ATGAAGGACAAACAGAAGAAGAAGAAGGAGCGCACGTGGGCCGAGGCCGCGCGCCTG | GTA c.60
M K D K Q K K K K E R T W A E A A R L | V p.20
. . . . . . g.13103
TTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGATTCTGCAGGTCATAGAGGCA c.120
L E N Y S D A P M T P K Q I L Q V I E A p.40
. . | 03 | 04 . . . . g.15708
GAAGGACTAAAGGAAATGAG | AAG | TGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTA c.180
E G L K E M R | S | G T S P L A C L N A M L p.60
. . . . . . g.15768
CATTCCAATTCAAGAGGAGGAGAGGGGTTGTTTTATAAACTGCCTGGCCGAATCAGCCTT c.240
H S N S R G G E G L F Y K L P G R I S L p.80
. | 05 . . . . . g.74832
TTCACGCTCAAG | AAGGATGCCCTGCAGTGGTCTCGCCATCCAGCTACAGTGGAGGGAGAG c.300
F T L K | K D A L Q W S R H P A T V E G E p.100
. . . . . . g.74892
GAGCCAGAGGACACGGCTGATGTGGAGAGCTGTGGGTCTAATGAAGCCAGCACTGTGAGT c.360
E P E D T A D V E S C G S N E A S T V S p.120
. | 06 . . . . . g.75028
GGTGAAAACGATG | TATCTCTTGATGAAACATCTTCGAACGCATCCTGTTCTACAGAATCT c.420
G E N D V | S L D E T S S N A S C S T E S p.140
. . . . . | 07 . g.76003
CAGAGTCGACCTCTTTCCAATCCCAGGGACAGCTACAGAGCTTCCTCACAG | GCGAACAAA c.480
Q S R P L S N P R D S Y R A S S Q | A N K p.160
. . . . . . g.76063
CAAAAGAAAAAGACTGGGGTGATGCTGCCTCGAGTTGTCCTGACTCCTCTGAAGGTAAAC c.540
Q K K K T G V M L P R V V L T P L K V N p.180
. . | 08 . . . . g.76592
GGGGCCCACGTGGAATCTGCATCAG | GGTTCTCGGGCTGCCACGCCGATGGCGAGAGCGGC c.600
G A H V E S A S G | F S G C H A D G E S G p.200
. . . . . . g.76652
AGCCCGTCCAGCAGCAGCAGCGGCTCTCTGGCCCTGGGCAGCGCTGCTATTCGTGGCCAG c.660
S P S S S S S G S L A L G S A A I R G Q p.220
. . . . . | 09 g.77979
GCCGAGGTCACCCAGGACCCTGCCCCGCTCCTGAGAGGCTTCCGGAAGCCAGCCACAG | GT c.720
A E V T Q D P A P L L R G F R K P A T G | p.240
. . . . . . g.78039
CAAATGAAGCGCAACAGAGGGGAAGAAATAGATTTTGAGACACCTGGGTCCATTCTTGTC c.780
Q M K R N R G E E I D F E T P G S I L V p.260
. . . . . . g.78099
AACACCAACCTCCGTGCCCTGATCAACTCTCGGACCTTCCATGCCTTACCATCACACTTC c.840
N T N L R A L I N S R T F H A L P S H F p.280
. . . . | 10 . . g.78257
CAGCAGCAGCTCCTCTTCCTCCTGCCTGAAGTAGACAGACAG | GTGGGGACGGATGGCCTG c.900
Q Q Q L L F L L P E V D R Q | V G T D G L p.300
. . . . . . g.78317
TTGCGTCTCAGCAGCAGTGCACTAAATAACGAGTTTTTTACCCATGCGGCTCAGAGCTGG c.960
L R L S S S A L N N E F F T H A A Q S W p.320
. | 11 . . . . g.79577
CGGGAGCGCCTGGCTGATG | GTGAATTTACTCATGAGATGCAAGTCAGGATACGACAGGAA c.1020
R E R L A D G | E F T H E M Q V R I R Q E p.340
. . . . . . g.79637
ATGGAGAAGGAAAAGAAGGTGGAACAATGGAAAGAAAAGTTCTTTGAAGACTACTATGGA c.1080
M E K E K K V E Q W K E K F F E D Y Y G p.360
| 12 . . . . . . g.79995
CAGAA | GCTGGGTTTGACCAAAGAAGAGTCATTGCAGCAGAACGTGGGCCAGGAGGAGGCT c.1140
Q K | L G L T K E E S L Q Q N V G Q E E A p.380
. . . . . . g.80055
GAAATCAAAAGTGGCTTGTGTGTCCCAGGAGAATCAGTGCGTATACAGCGTGGTCCAGCC c.1200
E I K S G L C V P G E S V R I Q R G P A p.400
. . . . . . g.80115
ACCCGACAGCGAGATGGGCATTTTAAGAAACGCTCTCGGCCAGATCTCCGAACCAGAGCC c.1260
T R Q R D G H F K K R S R P D L R T R A p.420
. . . . . . g.80175
AGAAGGAATCTGTACAAAAAACAGGAGTCAGAACAAGCAGGGGTTGCTAAGGATGCAAAA c.1320
R R N L Y K K Q E S E Q A G V A K D A K p.440
. . . . . . g.80235
TCTGTGGCCTCAGATGTTCCCCTCTACAAGGATGGGGAGGCTAAGACTGACCCAGCAGGG c.1380
S V A S D V P L Y K D G E A K T D P A G p.460
. . . . . . g.80295
CTGAGCAGTCCCCATCTGCCAGGCACATCCTCTGCAGCACCCGACCTGGAGGGTCCCGAA c.1440
L S S P H L P G T S S A A P D L E G P E p.480
. . . . . . g.80355
TTCCCAGTTGAGTCTGTGGCTTCTCGGATCCAGGCTGAGCCAGACAACTTGGCACGTGCC c.1500
F P V E S V A S R I Q A E P D N L A R A p.500
. . . . . . g.80415
TCTGCATCTCCAGACAGAATTCCTAGCCTGCCTCAGGAAACTGTGGATCAGGAACCCAAG c.1560
S A S P D R I P S L P Q E T V D Q E P K p.520
. . . . . . g.80475
GATCAGAAGAGGAAATCCTTTGAGCAGGCGGCCTCTGCATCCTTTCCCGAAAAGAAGCCC c.1620
D Q K R K S F E Q A A S A S F P E K K P p.540
. . . . . . g.80535
CGGCTTGAAGATCGTCAGTCCTTTCGTAACACAATTGAAAGTGTTCACACCGAAAAGCCA c.1680
R L E D R Q S F R N T I E S V H T E K P p.560
. . . | 13 . . g.81109
CAGCCCACTAAAGAGGAGCCCAAAGTCCCGCCCATCCGG | ATTCAACTTTCACGTATCAAA c.1740
Q P T K E E P K V P P I R | I Q L S R I K p.580
. . . . . . g.81169
CCACCCTGGGTGGTTAAAGGTCAGCCCACTTACCAGATATGCCCCCGGATCATCCCCACC c.1800
P P W V V K G Q P T Y Q I C P R I I P T p.600
. . . . . . g.81229
ACGGAGTCCTCCTGCCGGGGTTGGACTGGCGCCAGGACCCTCGCAGACATTAAAGCCCGT c.1860
T E S S C R G W T G A R T L A D I K A R p.620
. . . . . . g.81289
GCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCCATAGAGAGGCGGCCACCACTGCC c.1920
A L Q V R G A R G H H C H R E A A T T A p.640
. . . . . . g.81349
ATCGGAGGGGGGGGTGGCCCGGGTGGAGGTGGCGGCGGGGCCACCGATGAGGGAGGTGGC c.1980
I G G G G G P G G G G G G A T D E G G G p.660
. . . . . . g.81409
AGAGGCAGCAGCAGTGGTGATGGTGGTGAGGCCTGTGGCCACCCTGAGCCCAGGGGAGGC c.2040
R G S S S G D G G E A C G H P E P R G G p.680
. . . . . . g.81469
CCGAGCACCCCTGGAAAGTGTACGTCAGATCTACAGCGAACACAACTACTGCCGCCTTAT c.2100
P S T P G K C T S D L Q R T Q L L P P Y p.700
. . . . . . g.81529
CCTCTAAATGGGGAGCATACCCAGGCCGGAACTGCCATGTCCAGAGCTAGGAGAGAGGAC c.2160
P L N G E H T Q A G T A M S R A R R E D p.720
. . . . . . g.81589
CTGCCTTCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACA c.2220
L P S L R K E E S C L L Q R A T V G L T p.740
. . . . . . g.81649
GATGGGCTAGGAGATGCCTCCCAACTCCCCGTTGCTCCCACTGGGGACCAGCCATGCCAG c.2280
D G L G D A S Q L P V A P T G D Q P C Q p.760
. . . . . . g.81709
GCCTTGCCCCTACTGTCCTCCCAAACCTCAGTAGCTGAGAGATTAGTGGAGCAGCCTCAG c.2340
A L P L L S S Q T S V A E R L V E Q P Q p.780
. . . . . . g.81769
TTGCATCCGGATGTTAGAACTGAATGTGAGTCTGGCACCACTTCCTGGGAAAGTGATGAT c.2400
L H P D V R T E C E S G T T S W E S D D p.800
. . . . . . g.81829
GAGGAGCAAGGACCCACCGTTCCTGCAGACAATGGTCCCATTCCGTCTCTAGTGGGAGAT c.2460
E E Q G P T V P A D N G P I P S L V G D p.820
. . . . . . g.81889
GATACATTAGAGAAAGGAACTGGCCAAGCTCTTGACAGTCATCCCACTATGAAGGATCCT c.2520
D T L E K G T G Q A L D S H P T M K D P p.840
. . . . . . g.81949
GTAAATGTGACCCCCAGTTCCACACCTGAATCCTCACCGACTGATTGCCTGCAGAACAGA c.2580
V N V T P S S T P E S S P T D C L Q N R p.860
. . . . . . g.82009
GCATTTGATGACGAATTAGGGCTTGGTGGCTCATGCCCTCCTATGAGGGAAAGTGATACT c.2640
A F D D E L G L G G S C P P M R E S D T p.880
. . . . . . g.82069
AGACAAGAAAACTTGAAAACCAAGGCTCTCGTTTCTAACAGTTCTTTGCATTGGATACCC c.2700
R Q E N L K T K A L V S N S S L H W I P p.900
. . . . . . g.82129
ATCCCATCGAATGATGAGGTAGTGAAACAGCCCAAACCAGAATCCAGAGAACACATACCA c.2760
I P S N D E V V K Q P K P E S R E H I P p.920
. . . . . . g.82189
TCTGTTGAGCCCCAGGTTGGAGAGGAGTGGGAGAAAGCTGCTCCCACCCCTCCTGCATTG c.2820
S V E P Q V G E E W E K A A P T P P A L p.940
. . . . . . g.82249
CCTGGGGATTTGACAGCTGAGGAGGGTCTAGATCCTCTTGACAGCCTTACTTCACTCTGG c.2880
P G D L T A E E G L D P L D S L T S L W p.960
. . . . . . g.82309
ACTGTGCCATCTCGAGGAGGCAGTGACAGCAATGGCAGTTACTGTCAACAGGTGGACATT c.2940
T V P S R G G S D S N G S Y C Q Q V D I p.980
. . . . . . g.82369
GAAAAGCTGAAAATCAACGGAGACTCTGAAGCACTGAGTCCTCACGGTGAGTCCACGGAT c.3000
E K L K I N G D S E A L S P H G E S T D p.1000
. . . . . . g.82429
ACAGCCTCTGACTTTGAAGGTCACCTCACGGAGGACAGCAGTGAGGCTGACACTAGAGAA c.3060
T A S D F E G H L T E D S S E A D T R E p.1020
. . . . . . g.82489
GCTGCAGTGACAAAGGGATCTTCGGTGGACAAGGATGAGAAACCCAATTGGAACCAATCT c.3120
A A V T K G S S V D K D E K P N W N Q S p.1040
. . . . . . g.82549
GCCCCACTGTCCAAGGTGAATGGTGACATGCGTCTGGTTACAAGGACAGATGGGATGGTT c.3180
A P L S K V N G D M R L V T R T D G M V p.1060
. . . . . . g.82609
GCTCCTCAGAGCTGGGTGTCTCGAGTATGTGCGGTCCGCCAAAAGATCCCAGATTCCCTA c.3240
A P Q S W V S R V C A V R Q K I P D S L p.1080
. . . . . . g.82669
CTGCTGGCCAGTACTGAGTACCAGCCAAGAGCCGTGTGCCTGTCCATGCCTGGGTCCTCA c.3300
L L A S T E Y Q P R A V C L S M P G S S p.1100
. . . . . . g.82729
GTGGAGGCCACTAACCCACTTGTGATGCAGTTGCTGCAGGGTAGCTTGCCCCTAGAGAAG c.3360
V E A T N P L V M Q L L Q G S L P L E K p.1120
. . . . . . g.82789
GTTCTTCCACCAGCCCACGATGACAGCATGTCAGAATCCCCACAAGTACCACTTACAAAA c.3420
V L P P A H D D S M S E S P Q V P L T K p.1140
. . . . . . g.82849
GACCAGAGCCATGGCTCGCTACGCATGGGATCTTTACATGGTCTTGGAAAAAACAGTGGC c.3480
D Q S H G S L R M G S L H G L G K N S G p.1160
. . . . . . g.82909
ATGGTTGATGGAAGCAGCCCCAGTTCTTTAAGGGCTTTGAAGGAGCCTCTTCTGCCAGAT c.3540
M V D G S S P S S L R A L K E P L L P D p.1180
. . . . . . g.82969
AGCTGTGAAACAGGCACTGGTCTTGCCAGGATTGAGGCCACCCAGGCTCCTGGAGCACCC c.3600
S C E T G T G L A R I E A T Q A P G A P p.1200
. . . . . . g.83029
CAAAAGAATTGCAAGGCAGTCCCAAGTTTTGACTCCCTCCATCCAGTGACAAATCCCATT c.3660
Q K N C K A V P S F D S L H P V T N P I p.1220
. . . . . . g.83089
ACATCCTCTAGGAAACTGGAAGAAATGGATTCCAAAGAGCAGTTCTCTTCCTTTAGTTGT c.3720
T S S R K L E E M D S K E Q F S S F S C p.1240
. . . . . . g.83149
GAAGATCAGAAGGAAGTCCGTGCTATGTCACAGGACAGTAATTCAAATGCTGCTCCAGGA c.3780
E D Q K E V R A M S Q D S N S N A A P G p.1260
. . . . . . g.83209
AAGAGCCCAGGAGATCTTACTACCTCGAGAACACCTCGTTTCTCATCTCCAAATGTGATC c.3840
K S P G D L T T S R T P R F S S P N V I p.1280
. . . . . . g.83269
TCCTTTGGTCCAGAGCAGACAGGTCGGGCCCTGGGTGATCAGAGCAATGTTACAGGCCAA c.3900
S F G P E Q T G R A L G D Q S N V T G Q p.1300
. . . . . . g.83329
GGGAAGAAGCTTTTTGGCTCTGGGAATGTGGCTGCAACCCTTCAGCGCCCCAGGCCTGCG c.3960
G K K L F G S G N V A A T L Q R P R P A p.1320
. . . . . . g.83389
GACCCGATGCCTCTTCCTGCTGAGATCCCTCCAGTTTTTCCCAGTGGGAAGTTGGGACCA c.4020
D P M P L P A E I P P V F P S G K L G P p.1340
. . . . . . g.83449
AGCACAAACTCCATGTCTGGTGGGGTACAGACTCCAAGGGAAGACTGGGCTCCAAAGCCA c.4080
S T N S M S G G V Q T P R E D W A P K P p.1360
. . . . . . g.83509
CATGCCTTTGTTGGCAGCGTCAAGAATGAGAAGACTTTTGTGGGGGGTCCTCTTAAGGCA c.4140
H A F V G S V K N E K T F V G G P L K A p.1380
. . . . . . g.83569
AATGCCGAGAACAGGAAAGCTACTGGGCATAGTCCCCTGGAACTGGTGGGTCACTTGGAA c.4200
N A E N R K A T G H S P L E L V G H L E p.1400
. . . . . . g.83629
GGGATGCCCTTTGTCATGGACTTGCCCTTCTGGAAATTACCCCGAGAGCCAGGGAAGGGG c.4260
G M P F V M D L P F W K L P R E P G K G p.1420
. . . . . . g.83689
CTCAGTGAGCCTCTGGAGCCTTCTTCTCTCCCCTCCCAACTCAGCATCAAGCAGGCATTT c.4320
L S E P L E P S S L P S Q L S I K Q A F p.1440
. . . . . . g.83749
TATGGGAAGCTTTCTAAACTCCAACTGAGTTCCACCAGCTTTAATTATTCCTCTAGCTCT c.4380
Y G K L S K L Q L S S T S F N Y S S S S p.1460
. . . . . . g.83809
CCCACCTTTCCCAAAGGCCTTGCTGGAAGTGTGGTGCAGCTGAGCCACAAAGCAAACTTT c.4440
P T F P K G L A G S V V Q L S H K A N F p.1480
. . . . . . g.83869
GGTGCGAGCCACAGTGCATCACTTTCCTTGCAAATGTTCACTGACAGCAGCACGGTGGAA c.4500
G A S H S A S L S L Q M F T D S S T V E p.1500
. . . . . . g.83929
AGCATCTCGCTCCAGTGTGCGTGCAGCCTGAAAGCCATGATCATGTGCCAAGGCTGCGGT c.4560
S I S L Q C A C S L K A M I M C Q G C G p.1520
. . . . . . g.83989
GCGTTCTGTCACGATGACTGTATTGGACCCTCAAAGCTCTGTGTATTGTGCCTTGTGGTG c.4620
A F C H D D C I G P S K L C V L C L V V p.1540
g.83995
AGATAA c.4626
R X p.1541
. . . . . . g.84055
taaattatggccatgggaaacattgtatatttagtgtgtgtattttgataatgattgatc c.*60
. . . . . . g.84115
ttaaatctgtatacagaatatcattgatataatactctttaggcaggagcactcttgcct c.*120
. . . . . . g.84175
tcccccaaaatttacactgctaaagccctctgtcacttggcgacccttctggtcttgctg c.*180
. . . . . . g.84235
gaggggtttcctgggtataacccattgggctgcccaaggccagccagcctgagctctcct c.*240
. . . . . . g.84295
gcaagacagagcctgatgtggcacggagtggggttgcggggggtggggggactgcctgac c.*300
. . . . . . g.84355
tcccagagggacttgaaactgaagcaagaaggttgcattctccaccaagggagttaacct c.*360
. . . . . . g.84415
acctgaactaagtagaaatgccagtcttccactaccccctccctgccatcttttcttctg c.*420
. . . . . . g.84475
ctactttggggagttgatggccaggaaagaagccagcacagggttaaagtaactcctggc c.*480
. . . . . . g.84535
attgcccaccagggggctggtgcacctgctgacctcagggtcacagttgagtcatttgcc c.*540
. . . . . . g.84595
agttgacggagcaagtttgaccttggttctgttgctgaagcaaatttggaacttttctgt c.*600
. . . . . . g.84655
ctcagtgtgatccactaacccacaggatcatttggaaccttgaatagctctgcttggaca c.*660
. . . . . . g.84715
atggggttggggaatagggttgtctttcctatgaaaatgccatctgtagaccttgtgagt c.*720
. . . . . . g.84775
cagccgtccagatgtttgcaggtgaattcctctgcttgacatcctccctgtcactttgga c.*780
. . . . . . g.84835
ccctatgggagtgggcatctccacgcacctgtgtatgtgaaagtcattttacatttcaaa c.*840
. . . . . . g.84895
gcagtgtgtgtttcttatttttatatttttaactctttattcttggatgtataaagtgaa c.*900
. . . . . . g.84955
ctttttggcttctgtaagtatgctctatgcacctctaatgttttatcatgtatttatatg c.*960
. . . . . . g.85015
ttgtacacagtactggctgattctgtaaatggatgtattgtacagagaacatgaacgtct c.*1020
. . . . . . g.85075
cttcctaattttacatcttcagcatcattgcattaaagtggtgtaatctccttctctaca c.*1080
. . . . . . g.85135
tctgttgtcagagccactgagtgctgtgctgctcgacgtgagggtgaaatgattgacttg c.*1140
. . . . . . g.85195
tgacctgccaggttgcccgatgccctgttgggtcaccggctggacctgctgcagcctgca c.*1200
. . . . . . g.85255
gagccacagtcagcctgcccacatgccaccgagcaaacgcatcttgcttttcacatctct c.*1260
. . . . . . g.85315
cctcctacagccttaatggctgcttgctgccatatgtgacaaatcaccaccaccagtgtt c.*1320
. . . . . . g.85375
aagtgcttctggattcatgggtgagttccctgggcagcccccaggaaggccttccagatc c.*1380
. . . . . . g.85435
tggctccagggtcaccacctgtcacagcaatacctgggaccatgctctcctgggactgtg c.*1440
. . . . . . g.85495
aggctccttttgacgtacttttgacatcaggcaggtttgggaagaaacaaagccatgcct c.*1500
. . . . . . g.85555
gctcctgcctctctcccaacatgtttccagcaagtagatgcccctgtgtgtgttttccct c.*1560
. . . . . . g.85615
tgccttgtttcctgccttatatcttgtatttcgacttattacagagttgagggttcttgc c.*1620
. . . . . . g.85675
ttaatttagatcaagtataaaatttgtatgacttcaagtctcattttatctgaaaggttt c.*1680
. . . . . . g.85735
ttttctcatttaatctgatgtggcattttcgtcatctgaagcatgagtgacaagttggga c.*1740
. . . . . . g.85795
atgatgtggtgatttagaatgcagtattggccaagtccaagttgtcaacttaagcgtctg c.*1800
. . . . . . g.85855
tttaccaaagaccgggaacaggggcccaaacatgtccagtcctcttcttccctctgctgg c.*1860
. . . . . . g.85915
aacctttggggacactcaagggtacagtttgacactgatctggtccatgaggctgcccag c.*1920
. . . . . . g.85975
agaaagcactgcttctgtatgtctcttgtggtattggaacaataaacccgtacaacctgc c.*1980
g.85976
a c.*1981
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center