(used for variant description)
(last modified December 19, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001673.4 in the ASNS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ASNS transcript NM_001673.4.
(upstream sequence)
. g.5011
agtcctgctcc c.-241
. . . . . . g.5071
gccccggacaccccgcggccccgcccctgtgcgcgctggttggtcctcgcaggcatgatg c.-181
. . . . . . g.5131
aaacttcccgcacgcgttacaggagccaggtcggtataagcgccagcggcctcgccgccc c.-121
. . . . . . g.5191
gtcaagctgtccacatccctggcctcagcccgccacatcaccctgacctgcttacgccca c.-61
. | 02 . . . | 03 . . g.8386
g | attttcttcaatcacatctgaataaatcacttgaag | aaagcttatagcttcattgcacc c.-1
. . . . . . g.8446
ATGTGTGGCATTTGGGCGCTGTTTGGCAGTGATGATTGCCTTTCTGTTCAGTGTCTGAGT c.60
M C G I W A L F G S D D C L S V Q C L S p.20
. . . . . . g.8506
GCTATGAAGATTGCACACAGAGGTCCAGATGCATTCCGTTTTGAGAATGTCAATGGATAC c.120
A M K I A H R G P D A F R F E N V N G Y p.40
. . . . . . g.8566
ACCAACTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGCTGTTTGGAATGCAG c.180
T N C C F G F H R L A V V D P L F G M Q p.60
. . . . . . g.8626
CCAATTCGAGTGAAGAAATATCCGTATTTGTGGCTCTGTTACAATGGTGAAATCTACAAC c.240
P I R V K K Y P Y L W L C Y N G E I Y N p.80
| 04 . . . . . g.13097
CATAAGAAG | ATGCAACAGCATTTTGAATTTGAATACCAGACCAAAGTGGATGGTGAGATA c.300
H K K | M Q Q H F E F E Y Q T K V D G E I p.100
. . . . . . g.13157
ATCCTTCATCTTTATGACAAAGGAGGAATTGAGCAAACAATTTGTATGTTGGATGGTGTG c.360
I L H L Y D K G G I E Q T I C M L D G V p.120
. . . . . . g.13217
TTTGCATTTGTTTTACTGGATACTGCCAATAAGAAAGTGTTCCTGGGTAGAGATACATAT c.420
F A F V L L D T A N K K V F L G R D T Y p.140
. . . . . . g.13277
GGAGTCAGACCTTTGTTTAAAGCAATGACAGAAGATGGATTTTTGGCTGTATGTTCAGAA c.480
G V R P L F K A M T E D G F L A V C S E p.160
| 05. . . . . . g.18197
GCTAAAG | GTCTTGTTACATTGAAGCACTCCGCGACTCCCTTTTTAAAAGTGGAGCCTTTT c.540
A K G | L V T L K H S A T P F L K V E P F p.180
. . . . . . g.18257
CTTCCTGGACACTATGAAGTTTTGGATTTAAAGCCAAATGGCAAAGTTGCATCCGTGGAA c.600
L P G H Y E V L D L K P N G K V A S V E p.200
. . . . . . g.18317
ATGGTTAAATATCATCACTGTCGGGATGTACCCCTGCACGCCCTCTATGACAATGTGGAG c.660
M V K Y H H C R D V P L H A L Y D N V E p.220
. | 06 . . . . . g.18634
AAACTCTTTCCAG | GTTTTGAGATAGAAACTGTGAAGAACAACCTCAGGATCCTTTTTAAT c.720
K L F P G | F E I E T V K N N L R I L F N p.240
. . . . . | 07 . g.19142
AATGCTGTAAAGAAACGTTTGATGACAGACAGAAGGATTGGCTGCCTTTTATCAG | GGGGC c.780
N A V K K R L M T D R R I G C L L S G | G p.260
. . . . . . g.19202
TTGGACTCCAGCTTGGTTGCTGCCACTCTGTTGAAGCAGCTGAAAGAAGCCCAAGTACAG c.840
L D S S L V A A T L L K Q L K E A Q V Q p.280
. . . . . . g.19262
TATCCTCTCCAGACATTTGCAATTGGCATGGAAGACAGCCCCGATTTACTGGCTGCTAGA c.900
Y P L Q T F A I G M E D S P D L L A A R p.300
| 08 . . . . . . g.20783
AAG | GTGGCAGATCATATTGGAAGTGAACATTATGAAGTCCTTTTTAACTCTGAGGAAGGC c.960
K | V A D H I G S E H Y E V L F N S E E G p.320
. . . . . . g.20843
ATTCAGGCTCTGGATGAAGTCATATTTTCCTTGGAAACTTATGACATTACAACAGTTCGT c.1020
I Q A L D E V I F S L E T Y D I T T V R p.340
. | 09 . . . . . g.22133
GCTTCAGTAG | GTATGTATTTAATTTCCAAGTATATTCGGAAGAACACAGATAGCGTGGTG c.1080
A S V G | M Y L I S K Y I R K N T D S V V p.360
. . . . . | 10. g.22865
ATCTTCTCTGGAGAAGGATCAGATGAACTTACGCAGGGTTACATATATTTTCACAAG | GCT c.1140
I F S G E G S D E L T Q G Y I Y F H K | A p.380
. . . . . . g.22925
CCTTCTCCTGAAAAAGCCGAGGAGGAGAGTGAGAGGCTTCTGAGGGAACTCTATTTGTTT c.1200
P S P E K A E E E S E R L L R E L Y L F p.400
. . . | 11 . . g.24178
GATGTTCTCCGCGCAGATCGAACTACTGCTGCCCATGG | TCTTGAACTGAGAGTCCCATTT c.1260
D V L R A D R T T A A H G | L E L R V P F p.420
. . . . . . g.24238
CTAGATCATCGATTTTCTTCCTATTACTTGTCTCTGCCACCAGAAATGAGAATTCCAAAG c.1320
L D H R F S S Y Y L S L P P E M R I P K p.440
| 12 . . . . . . g.24387
| AATGGGATAGAAAAACATCTCCTGAGAGAGACGTTTGAGGATTCCAATCTGATACCCAAA c.1380
| N G I E K H L L R E T F E D S N L I P K p.460
. . . . . . g.24447
GAGATTCTCTGGCGACCAAAAGAAGCCTTCAGTGATGGAATAACTTCAGTTAAGAATTCC c.1440
E I L W R P K E A F S D G I T S V K N S p.480
. . . | 13 . . . g.25098
TGGTTTAAGATTTTACAGGAATACGTTGAACATCAG | GTTGATGATGCAATGATGGCAAAT c.1500
W F K I L Q E Y V E H Q | V D D A M M A N p.500
. . . . . . g.25158
GCAGCCCAGAAATTTCCCTTCAATACTCCTAAAACCAAAGAAGGATATTACTACCGTCAA c.1560
A A Q K F P F N T P K T K E G Y Y Y R Q p.520
. . . . . . g.25218
GTCTTTGAACGCCATTACCCAGGCCGGGCTGACTGGCTGAGCCATTACTGGATGCCCAAG c.1620
V F E R H Y P G R A D W L S H Y W M P K p.540
. . . . . . g.25278
TGGATCAATGCCACTGACCCTTCTGCCCGCACGCTGACCCACTACAAGTCAGCTGTCAAA c.1680
W I N A T D P S A R T L T H Y K S A V K p.560
g.25284
GCTTAG c.1686
A X p.561
. . . . . . g.25344
gtggtctttatgctgtaatgtgaaagcaaatatttcttcgtgttggatggggactgtggg c.*60
. . . . . . g.25404
tagataggggaacaatgagagtcaactcaggctaacttgggtgtgaaaaaaataaaagtc c.*120
. . g.25426
ctaaatctaaaccattgctgta c.*142
(downstream sequence)
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