(used for variant description)
(last modified November 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005157.4 in the ABL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012034.1, covering ABL1 transcript NM_005157.4.
(upstream sequence)
g.126566
aaa c.-1
. . . . . . g.126626
ATGTTGGAGATCTGCCTGAAGCTGGTGGGCTGCAAATCCAAGAAGGGGCTGTCCTCGTCC c.60
M L E I C L K L V G C K S K K G L S S S p.20
. | 02 . . . . g.145224
TCCAGCTGTTATCTGGAAG | AAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAG c.120
S S C Y L E E | A L Q R P V A S D F E P Q p.40
. . . . . . g.145284
GGTCTGAGTGAAGCCGCTCGTTGGAACTCCAAGGAAAACCTTCTCGCTGGACCCAGTGAA c.180
G L S E A A R W N S K E N L L A G P S E p.60
. . . . . . g.145344
AATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTA c.240
N D P N L F V A L Y D F V A S G D N T L p.80
. | 03 . . . . . g.145967
AGCATAACTAAAG | GTGAAAAGCTCCGGGTCTTAGGCTATAATCACAATGGGGAATGGTGT c.300
S I T K G | E K L R V L G Y N H N G E W C p.100
. . . . . . g.146027
GAAGCCCAAACCAAAAATGGCCAAGGCTGGGTCCCAAGCAACTACATCACGCCAGTCAAC c.360
E A Q T K N G Q G W V P S N Y I T P V N p.120
. . . . . . g.146087
AGTCTGGAGAAACACTCCTGGTACCATGGGCCTGTGTCCCGCAATGCCGCTGAGTATCTG c.420
S L E K H S W Y H G P V S R N A A E Y L p.140
. . . . . . g.146147
CTGAGCAGCGGGATCAATGGCAGCTTCTTGGTGCGTGAGAGTGAGAGCAGTCCTGGCCAG c.480
L S S G I N G S F L V R E S E S S P G Q p.160
. . . . . . g.146207
AGGTCCATCTCGCTGAGATACGAAGGGAGGGTGTACCATTACAGGATCAACACTGCTTCT c.540
R S I S L R Y E G R V Y H Y R I N T A S p.180
| 04 . . . . . g.153933
GATGGCAAG | CTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCAT c.600
D G K | L Y V S S E S R F N T L A E L V H p.200
. . . . . . g.153993
CATCATTCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGC c.660
H H S T V A D G L I T T L H Y P A P K R p.220
. . . . . . g.154053
AACAAGCCCACTGTCTATGGTGTGTCCCCCAACTACGACAAGTGGGAGATGGAACGCACG c.720
N K P T V Y G V S P N Y D K W E M E R T p.240
. . . . . . g.154113
GACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTG c.780
D I T M K H K L G G G Q Y G E V Y E G V p.260
. . . . | 05 . . g.163266
TGGAAGAAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAG | GAGGACACCATGGAGGTG c.840
W K K Y S L T V A V K T L K | E D T M E V p.280
. . . . . . g.163326
GAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAG c.900
E E F L K E A A V M K E I K H P N L V Q p.300
| 06. . . . . . g.164032
CTCCTTG | GGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTAC c.960
L L G | V C T R E P P F Y I I T E F M T Y p.320
. . . . . . g.164092
GGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTG c.1020
G N L L D Y L R E C N R Q E V N A V V L p.340
. . . . . . g.164152
CTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATC c.1080
L Y M A T Q I S S A M E Y L E K K N F I p.360
| 07 . . . . . . g.166042
CACAG | AGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCT c.1140
H R | D L A A R N C L V G E N H L V K V A p.380
. . . . . . g.166102
GATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAG c.1200
D F G L S R L M T G D T Y T A H A G A K p.400
. . . . . . g.166162
TTCCCCATCAAATGGACTGCACCCGAGAGCCTGGCCTACAACAAGTTCTCCATCAAGTCC c.1260
F P I K W T A P E S L A Y N K F S I K S p.420
. | 08 . . . . . g.169584
GACGTCTGGG | CATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTAC c.1320
D V W A | F G V L L W E I A T Y G M S P Y p.440
. . . . . . g.169644
CCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGC c.1380
P G I D L S Q V Y E L L E K D Y R M E R p.460
. . . . | 09 . . g.171204
CCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCAT | GTTGGCAGTGGAATCCC c.1440
P E G C P E K V Y E L M R A C | W Q W N P p.480
. . . . . . g.171264
TCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCC c.1500
S D R P S F A E I H Q A F E T M F Q E S p.500
. | 10 . . . . . g.171666
AGTATCTCAGACG | AAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGT c.1560
S I S D E | V E K E L G K Q G V R G A V S p.520
. . . . . . g.171726
ACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAGACGAGGACCTCCAGGAGAGCTGCAGAG c.1620
T L L Q A P E L P T K T R T S R R A A E p.540
. . . . . | 11 g.175090
CACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCG | AT c.1680
H R D T T D V P E M P H S K G Q G E S D | p.560
. . . . . . g.175150
CCTCTGGACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCG c.1740
P L D H E P A V S P L L P R K E R G P P p.580
. . . . . . g.175210
GAGGGCGGCCTGAATGAAGATGAGCGCCTTCTCCCCAAAGACAAAAAGACCAACTTGTTC c.1800
E G G L N E D E R L L P K D K K T N L F p.600
. . . . . . g.175270
AGCGCCTTGATCAAGAAGAAGAAGAAGACAGCCCCAACCCCTCCCAAACGCAGCAGCTCC c.1860
S A L I K K K K K T A P T P P K R S S S p.620
. . . . . . g.175330
TTCCGGGAGATGGACGGCCAGCCGGAGCGCAGAGGGGCCGGCGAGGAAGAGGGCCGAGAC c.1920
F R E M D G Q P E R R G A G E E E G R D p.640
. . . . . . g.175390
ATCAGCAACGGGGCACTGGCTTTCACCCCCTTGGACACAGCTGACCCAGCCAAGTCCCCA c.1980
I S N G A L A F T P L D T A D P A K S P p.660
. . . . . . g.175450
AAGCCCAGCAATGGGGCTGGGGTCCCCAATGGAGCCCTCCGGGAGTCCGGGGGCTCAGGC c.2040
K P S N G A G V P N G A L R E S G G S G p.680
. . . . . . g.175510
TTCCGGTCTCCCCACCTGTGGAAGAAGTCCAGCACGCTGACCAGCAGCCGCCTAGCCACC c.2100
F R S P H L W K K S S T L T S S R L A T p.700
. . . . . . g.175570
GGCGAGGAGGAGGGCGGTGGCAGCTCCAGCAAGCGCTTCCTGCGCTCTTGCTCCGCCTCC c.2160
G E E E G G G S S S K R F L R S C S A S p.720
. . . . . . g.175630
TGCGTTCCCCATGGGGCCAAGGACACGGAGTGGAGGTCAGTCACGCTGCCTCGGGACTTG c.2220
C V P H G A K D T E W R S V T L P R D L p.740
. . . . . . g.175690
CAGTCCACGGGAAGACAGTTTGACTCGTCCACATTTGGAGGGCACAAAAGTGAGAAGCCG c.2280
Q S T G R Q F D S S T F G G H K S E K P p.760
. . . . . . g.175750
GCTCTGCCTCGGAAGAGGGCAGGGGAGAACAGGTCTGACCAGGTGACCCGAGGCACAGTA c.2340
A L P R K R A G E N R S D Q V T R G T V p.780
. . . . . . g.175810
ACGCCTCCCCCCAGGCTGGTGAAAAAGAATGAGGAAGCTGCTGATGAGGTCTTCAAAGAC c.2400
T P P P R L V K K N E E A A D E V F K D p.800
. . . . . . g.175870
ATCATGGAGTCCAGCCCGGGCTCCAGCCCGCCCAACCTGACTCCAAAACCCCTCCGGCGG c.2460
I M E S S P G S S P P N L T P K P L R R p.820
. . . . . . g.175930
CAGGTCACCGTGGCCCCTGCCTCGGGCCTCCCCCACAAGGAAGAAGCTGGAAAGGGCAGT c.2520
Q V T V A P A S G L P H K E E A G K G S p.840
. . . . . . g.175990
GCCTTAGGGACCCCTGCTGCAGCTGAGCCAGTGACCCCCACCAGCAAAGCAGGCTCAGGT c.2580
A L G T P A A A E P V T P T S K A G S G p.860
. . . . . . g.176050
GCACCAGGGGGCACCAGCAAGGGCCCCGCCGAGGAGTCCAGAGTGAGGAGGCACAAGCAC c.2640
A P G G T S K G P A E E S R V R R H K H p.880
. . . . . . g.176110
TCCTCTGAGTCGCCAGGGAGGGACAAGGGGAAATTGTCCAGGCTCAAACCTGCCCCGCCG c.2700
S S E S P G R D K G K L S R L K P A P P p.900
. . . . . . g.176170
CCCCCACCAGCAGCCTCTGCAGGGAAGGCTGGAGGAAAGCCCTCGCAGAGCCCGAGCCAG c.2760
P P P A A S A G K A G G K P S Q S P S Q p.920
. . . . . . g.176230
GAGGCGGCCGGGGAGGCAGTCCTGGGCGCAAAGACAAAAGCCACGAGTCTGGTTGATGCT c.2820
E A A G E A V L G A K T K A T S L V D A p.940
. . . . . . g.176290
GTGAACAGTGACGCTGCCAAGCCCAGCCAGCCGGGAGAGGGCCTCAAAAAGCCCGTGCTC c.2880
V N S D A A K P S Q P G E G L K K P V L p.960
. . . . . . g.176350
CCGGCCACTCCAAAGCCACAGTCCGCCAAGCCGTCGGGGACCCCCATCAGCCCAGCCCCC c.2940
P A T P K P Q S A K P S G T P I S P A P p.980
. . . . . . g.176410
GTTCCCTCCACGTTGCCATCAGCATCCTCGGCCCTGGCAGGGGACCAGCCGTCTTCCACC c.3000
V P S T L P S A S S A L A G D Q P S S T p.1000
. . . . . . g.176470
GCCTTCATCCCTCTCATATCAACCCGAGTGTCTCTTCGGAAAACCCGCCAGCCTCCAGAG c.3060
A F I P L I S T R V S L R K T R Q P P E p.1020
. . . . . . g.176530
CGGATCGCCAGCGGCGCCATCACCAAGGGCGTGGTCCTGGACAGCACCGAGGCGCTGTGC c.3120
R I A S G A I T K G V V L D S T E A L C p.1040
. . . . . . g.176590
CTCGCCATCTCTAGGAACTCCGAGCAGATGGCCAGCCACAGCGCAGTGCTGGAGGCCGGC c.3180
L A I S R N S E Q M A S H S A V L E A G p.1060
. . . . . . g.176650
AAAAACCTCTACACGTTCTGCGTGAGCTATGTGGATTCCATCCAGCAAATGAGGAACAAG c.3240
K N L Y T F C V S Y V D S I Q Q M R N K p.1080
. . . . . . g.176710
TTTGCCTTCCGAGAGGCCATCAACAAACTGGAGAATAATCTCCGGGAGCTTCAGATCTGC c.3300
F A F R E A I N K L E N N L R E L Q I C p.1100
. . . . . . g.176770
CCGGCGACAGCAGGCAGTGGTCCAGCGGCCACTCAGGACTTCAGCAAGCTCCTCAGTTCG c.3360
P A T A G S G P A A T Q D F S K L L S S p.1120
. . . g.176803
GTGAAGGAAATCAGTGACATAGTGCAGAGGTAG c.3393
V K E I S D I V Q R X p.1130
. . . . . . g.176863
cagcagtcaggggtcaggtgtcaggcccgtcggagctgcctgcagcacatgcgggctcgc c.*60
. . . . . . g.176923
ccatacccgtgacagtggctgacaagggactagtgagtcagcaccttggcccaggagctc c.*120
. . . . . . g.176983
tgcgccaggcagagctgagggccctgtggagtccagctctactacctacgtttgcaccgc c.*180
. . . . . . g.177043
ctgccctcccgcaccttcctcctccccgctccgtctctgtcctcgaattttatctgtgga c.*240
. . . . . . g.177103
gttcctgctccgtggactgcagtcggcatgccaggacccgccagccccgctcccacctag c.*300
. . . . . . g.177163
tgccccagactgagctctccaggccaggtgggaacggctgatgtggactgtctttttcat c.*360
. . . . . . g.177223
ttttttctctctggagcccctcctcccccggctgggcctccttcttccacttctccaaga c.*420
. . . . . . g.177283
atggaagcctgaactgaggccttgtgtgtcaggccctctgcctgcactccctggccttgc c.*480
. . . . . . g.177343
ccgtcgtgtgctgaagacatgtttcaagaaccgcatttcgggaagggcatgcacgggcat c.*540
. . . . . . g.177403
gcacacggctggtcactctgccctctgctgctgcccggggtggggtgcactcgccatttc c.*600
. . . . . . g.177463
ctcacgtgcaggacagctcttgatttgggtggaaaacagggtgctaaagccaaccagcct c.*660
. . . . . . g.177523
ttgggtcctgggcaggtgggagctgaaaaggatcgaggcatggggcatgtcctttccatc c.*720
. . . . . . g.177583
tgtccacatccccagagcccagctcttgctctcttgtgacgtgcactgtgaatcctggca c.*780
. . . . . . g.177643
agaaagcttgagtctcaagggtggcaggtcactgtcactgccgacatccctcccccagca c.*840
. . . . . . g.177703
gaatggaggcaggggacaagggaggcagtggctagtggggtgaacagctggtgccaaata c.*900
. . . . . . g.177763
gccccagactgggcccaggcaggtctgcaagggcccagagtgaaccgtcctttcacacat c.*960
. . . . . . g.177823
ctgggtgccctgaaagggcccttcccctcccccactcctctaagacaaagtagattctta c.*1020
. . . . . . g.177883
caaggccctttcctttggaacaagacagccttcacttttctgagttcttgaagcatttca c.*1080
. . . . . . g.177943
aagccctgcctctgtgtagccgccctgagagagaatagagctgccactgggcacctgcgc c.*1140
. . . . . . g.178003
acaggtgggaggaaagggcctggccagtcctggtcctggctgcactcttgaactgggcga c.*1200
. . . . . . g.178063
atgtcttatttaattaccgtgagtgacatagcctcatgttctgtgggggtcatcagggag c.*1260
. . . . . . g.178123
ggttaggaaaaccacaaacggagcccctgaaagcctcacgtatttcacagagcacgcctg c.*1320
. . . . . . g.178183
ccatcttctccccgaggctgccccaggccggagcccagatacgggggctgtgactctggg c.*1380
. . . . . . g.178243
cagggacccggggtctcctggaccttgacagagcagctaactccgagagcagtgggcagg c.*1440
. . . . . . g.178303
tggccgcccctgaggcttcacgccgggagaagccaccttcccaccccttcataccgcctc c.*1500
. . . . . . g.178363
gtgccagcagcctcgcacaggccctagctttacgctcatcacctaaacttgtactttatt c.*1560
. . . . . . g.178423
tttctgatagaaatggtttcctctggatcgttttatgcggttcttacagcacatcacctc c.*1620
. . . . . . g.178483
tttgcccccgacggctgtgacgcagccggagggaggcactagtcaccgacagcggccttg c.*1680
. . . . . . g.178543
aagacagagcaaagcgcccacccaggtcccccgactgcctgtctccatgaggtactggtc c.*1740
. . . . . . g.178603
ccttccttttgttaacgtgatgtgccactatattttacacgtatctcttggtatgcatct c.*1800
. . . . . . g.178663
tttatagacgctcttttctaagtggcgtgtgcatagcgtcctgccctgccccctcggggg c.*1860
. . . . . . g.178723
cctgtggtggctccccctctgcttctcggggtccagtgcattttgtttctgtatatgatt c.*1920
. . . . . . g.178783
ctctgtggttttttttgaatccaaatctgtcctctgtagtattttttaaataaatcagtg c.*1980
. g.178795
tttacattagaa c.*1992
(downstream sequence)
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