(used for variant description)
(last modified November 5, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_173812.4 in the DPY19L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031909.1, covering DPY19L2 transcript NM_173812.4.
(upstream sequence)
g.5001
a c.-181
. . . . . . g.5061
atggcttccaacgcatgcgccccaccccacatttcacagtcgccatgacgaccgggaggt c.-121
. . . . . . g.5121
ccgcaacggctgcggggacaagtccgttgaggctgccaggcgagtcaggtctctctggac c.-61
. . . . . . g.5181
ctcgcctgactcggctgggctgtgcctgaaattgacccagctccaccatactccttgatt c.-1
. . . . . . g.5241
ATGAGAAAACAAGGAGTAAGCTCAAAGCGGCTGCAATCTTCCGGCCGCAGCCAGTCTAAG c.60
M R K Q G V S S K R L Q S S G R S Q S K p.20
. . . . . . g.5301
GGGCGGCGCGGGGCCTCCCTCGCCCGGGAGCCGGAGGTAGAGGAGGAGATGGAAAAGTCG c.120
G R R G A S L A R E P E V E E E M E K S p.40
. . . . . . g.5361
GCCCTAGGCGGCGGGAAACTGCCAAGGGGCTCCTGGAGGTCCTCCCCGGGGAGGATCCAA c.180
A L G G G K L P R G S W R S S P G R I Q p.60
. . . . . . g.5421
AGTCTGAAAGAGCGAAAAGGCTTGGAGCTAGAGGTGGTGGCCAAGACCTTTCTTCTCGGC c.240
S L K E R K G L E L E V V A K T F L L G p.80
. . . . . . g.5481
CCCTTCCAGTTCGTCCGTAATTCCCTGGCGCAGCTCCGGGAAAAGGTGCAGGAACTGCAG c.300
P F Q F V R N S L A Q L R E K V Q E L Q p.100
. . . | 02. . . g.7738
GCGCGGCGGTTCTCCAGCAGAACCACTCTCGGCATCG | CTGTCTTTGTGGCAATTTTACAT c.360
A R R F S S R T T L G I A | V F V A I L H p.120
| 03 . . . . . . g.9787
TG | GTTACATTTAGTAACACTTTTTGAAAATGATCGTCATTTCTCTCACCTCTCATCTTTG c.420
W | L H L V T L F E N D R H F S H L S S L p.140
. . . | 04 . . . g.12123
GAACGGGAGATGACTTTTCGCACTGAAATG | GGACTTTATTATTCATACTTCAAGACCATT c.480
E R E M T F R T E M | G L Y Y S Y F K T I p.160
. . . . . . g.12183
ATTGAAGCACCTTCGTTTTTGGAAGGACTGTGGATGATTATGAATGACAGGCTTACTGAA c.540
I E A P S F L E G L W M I M N D R L T E p.180
. . . . | 05 . g.26221
TATCCTCTTATAATTAATGCAATAAAACGCTTCCATCTTTATCCAGAG | GTAATCATAGCC c.600
Y P L I I N A I K R F H L Y P E | V I I A p.200
. . . . . . g.26281
TCCTGGTATTGCACATTCATGGGAATAATGAATTTATTTGGACTAGAAACTAAGACCTGC c.660
S W Y C T F M G I M N L F G L E T K T C p.220
. . . . | 06 . g.29089
TGGAATGTCACCAGAATAGAACCTCTTAATGAAGTTCAAAGCTGTGAAG | GATTGGGAGAT c.720
W N V T R I E P L N E V Q S C E G | L G D p.240
. . . . . . g.29149
CCTGCTTGCTTTTATGTTGGTGTAATCTTTATTTTAAATGGACTAATGATGGGATTGTTC c.780
P A C F Y V G V I F I L N G L M M G L F p.260
. . | 07 . . . . g.47085
TTCATGTATGGAGCATACCTGAG | TGGGACTCAACTGGGAGGTCTTATTACAGTACTGTGC c.840
F M Y G A Y L S | G T Q L G G L I T V L C p.280
. . | 08 . . . . g.49482
TTCTTTTTCAACCATGGAGAG | GCCACCCGTGTGATGTGGACACCACCTCTCCGTGAAAGT c.900
F F F N H G E | A T R V M W T P P L R E S p.300
. . . . . | 09 . g.52244
TTTTCCTATCCTTTCCTTGTACTTCAGATGTGTATTTTAACTTTGATTCTCAG | GACCTCA c.960
F S Y P F L V L Q M C I L T L I L R | T S p.320
. . . . . . g.52304
AGCAATGATAGAAGGCCCTTCATTGCACTCTGTCTTTCCAATGTTGCTTTTATGCTTCCC c.1020
S N D R R P F I A L C L S N V A F M L P p.340
. . . | 10 . . . g.55373
TGGCAATTTGCTCAGTTTATACTTTTTACACAG | ATAGCATCATTATTTCCCATGTATGTT c.1080
W Q F A Q F I L F T Q | I A S L F P M Y V p.360
. . . . . | 11 . g.56193
GTGGGATACATTGAACCAAGCAAATTTCAGAAGATCATTTATATGAACATG | ATTTCAGTT c.1140
V G Y I E P S K F Q K I I Y M N M | I S V p.380
. . . . . . g.56253
ACCCTTAGTTTCATTTTGATGTTTGGAAATTCAATGTACTTATCTTCTTATTATTCTTCA c.1200
T L S F I L M F G N S M Y L S S Y Y S S p.400
. | 12 . . . . g.64941
TCTTTGTTAATGACGTGG | GCAATAATTCTAAAGAGAAATGAAATTCAAAAACTGGGAGTA c.1260
S L L M T W | A I I L K R N E I Q K L G V p.420
. | 13 . . . . g.73230
TCTAAACTCAACTTTTGG | CTAATTCAAGGTAGTGCCTGGTGGTGTGGAACAATCATTTTG c.1320
S K L N F W | L I Q G S A W W C G T I I L p.440
. . . | 14 . . g.75685
AAATTTCTGACATCTAAAATCTTAGGCGTTTCAGACCAC | ATTCGCCTGAGTGATCTTATA c.1380
K F L T S K I L G V S D H | I R L S D L I p.460
. . . . . . g.75745
GCAGCCAGAATCTTAAGGTATACAGATTTTGATACTTTAATATATACCTGTGCTCCCGAA c.1440
A A R I L R Y T D F D T L I Y T C A P E p.480
. . | 15 . . . . g.77576
TTTGACTTCATGGAAAAAGCG | ACTCCGCTGAGATACACAAAGACATTATTGCTTCCAGTT c.1500
F D F M E K A | T P L R Y T K T L L L P V p.500
. . . | 16 . . . g.79468
GTTATGGTGATTACATGTTTTATCTTTAAAAAG | ACTGTTCGTGATATTTCATATGTTTTA c.1560
V M V I T C F I F K K | T V R D I S Y V L p.520
. . | 17 . . | 18 . . g.91064
GCTACAAACATTTATCTAAG | AAAACAGCTCCTTGAACACAGTGAG | CTGGCTTTTCACACA c.1620
A T N I Y L R | K Q L L E H S E | L A F H T p.540
. . . . . . g.91124
TTGCAGTTGTTAGTGTTTACTGCCCTTGCCATTTTAATTATGAGGCTAAAGATGTTTTTG c.1680
L Q L L V F T A L A I L I M R L K M F L p.560
. . . . | 19 . . g.92753
ACACCGCACATGTGTGTTATGGCTTCCTTGATATGCTCTCGACAG | CTCTTTGGCTGGCTT c.1740
T P H M C V M A S L I C S R Q | L F G W L p.580
. . . . . . g.92813
TTTCGCAGAGTTCGTTTTGAGAAGGTTATCTTTGGCATTTTAACAGTGATGTCAATACAA c.1800
F R R V R F E K V I F G I L T V M S I Q p.600
. . . . . . g.92873
GGTTATGCAAACCTCCGTAATCAATGGAGCATAATAGGAGAATTTAATAATTTGCCTCAG c.1860
G Y A N L R N Q W S I I G E F N N L P Q p.620
. . . . | 20 . . g.102737
GAAGAACTTTTACAGTGGATCAAATACAGTACCACATCAG | ATGCTGTCTTTGCAGGTGCC c.1920
E E L L Q W I K Y S T T S D | A V F A G A p.640
. . . . . . g.102797
ATGCCTACAATGGCAAGCATCAAGCTGTCTACACTTCATCCCATTGTGAATCATCCACAT c.1980
M P T M A S I K L S T L H P I V N H P H p.660
. . | 21 . . . . g.104265
TACGAAGATGCAGACTTGAG | GGCTCGGACAAAAATAGTTTATTCTACATATAGTCGAAAA c.2040
Y E D A D L R | A R T K I V Y S T Y S R K p.680
. . . . . . g.104325
TCTGCCAAAGAAGTAAGAGATAAATTGTTGGAGTTACATGTGAATTATTATGTTTTAGAA c.2100
S A K E V R D K L L E L H V N Y Y V L E p.700
. . | 22 . . . . g.112946
GAGGCATGGTGTGTTGTGAGAACTAA | GCCTGGTTGCAGTATGCTTGAAATCTGGGATGTG c.2160
E A W C V V R T K | P G C S M L E I W D V p.720
. . . . . . g.113006
GAAGACCCTTCCAATGCAGCTAACCCTCCCTTATGTAGCGTCCTGCTCGAAGACGCCAGG c.2220
E D P S N A A N P P L C S V L L E D A R p.740
. . . . . g.113063
CCTTACTTCACCACAGTATTTCAGAATAGTGTGTACAGAGTATTAAAGGTTAACTGA c.2277
P Y F T T V F Q N S V Y R V L K V N X p.758
. . . . . . g.113123
gaaggatactacccattttactatggcacaatgccgtgtgtcaaaaacaatcaccctttg c.*60
. . . . . . g.113183
gcttattcacattaataaaaatcacaagctttaataacagacacttaaaaataagataaa c.*120
. . . . . . g.113243
aatggattggaaatttttctgattactaaaaggtaaattacttttctgttcattgaatgt c.*180
. . . . . . g.113303
cagccttattaagcttgtcatataagttattaaatcattcatgtcatactgcataaacaa c.*240
. . . . . . g.113363
atgttcatttcagaattttaaagagaaatgtatataaaagaacaatgaattttaataaat c.*300
. . . . . . g.113423
caggggtatgtaagtcctttttcatccaactaggtgaattgcttcagattttctctagta c.*360
. . . . . . g.113483
ccagagggtacctcctcaaactctttgaaccacttaaggcagaagaatgcaagctctgaa c.*420
. . . . . . g.113543
atgacatccttaaaatgctgatactggtcacagcctctttacctctgtgaggaaattgta c.*480
. . . . . . g.113603
acagtgtgtcttttaaggtgtttttattttaccagcccttaagaaagatctctaatacct c.*540
. . . . . . g.113663
tttaatacttttttttaataatttcaagttgaagtgtttttaaaaacactttgttttgta c.*600
. . . . . . g.113723
atgttttgaatctcttgagatgtgtttaccccactagatacatatttgccactggttagt c.*660
. . . . . . g.113783
tctccatctaagctcaagaggttattcatctctctttagattccagtggcttttctttta c.*720
. . . . . . g.113843
acatccaggtaaaacagaaactgctatggtatacaaccaagttttggggttaaacataat c.*780
. . . . . . g.113903
cagaaaagaaaatccagttaaatttatgaagtgagattttcagatcctagatcttgaata c.*840
. . . . . . g.113963
aaggaaaggtcttttcatcttgatggccccaaagcttgttggtcatggtctttatttctg c.*900
. . . . . . g.114023
gccactatcttcttaaataatatatttttaagccctcatttatttttggttttgggtgag c.*960
. . . . . . g.114083
gaaagtcatgttttctaagtcctctcccctaataaaacctacccaacaatagtgctttga c.*1020
. . . . . . g.114143
aaagtggtagttatcttgaagatactcttgccaaatgcaaagataaacattctttttgtc c.*1080
. . . . . . g.114203
tgctttataaatatgaaatatgccagatctatagtattttaatgtgcatctactttaaat c.*1140
. . . . . . g.114263
gagtcatcttggggtttttataattcccttatgttcttgcccctctacacttgaaataac c.*1200
. . . . . . g.114323
aaaatgccttaattttatggattagttctcttatagtagacaggcagctatatgcagcaa c.*1260
. . . . . . g.114383
aaccaataaagttatttttcaactttcatagttgtaaaatatcttataacagaatacaaa c.*1320
. . . . . . g.114443
acagctaagaaaacatgccacattttattttagcattttcaaataatttgtttttggtgt c.*1380
. . . . . . g.114503
aagcacaggataaaaaaggagagcgtcaaagaaaagagacataacacctaacattcataa c.*1440
. . . . . . g.114563
aaattaacaaagtatattttggatgatgtttttacaggaaatattttaaataagttggta c.*1500
. . . . . . g.114623
gaacttttaaaatggtactgtattagctaataaaatattcagtacaaatatatgtttgga c.*1560
. . . g.114662
tttatgcattaaaaaactaataaaattatttccaacttt c.*1599
(downstream sequence)
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