(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_012144.3 in the DNAI1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008127.1, covering DNAI1 transcript NM_012144.3.
(upstream sequence)
. g.4953
tcctttccgggccg c.-241
. . . . . . g.5013
gctgggcgcgccgaagcgcctgcgccttggctgctggtcggttgctgggtaaccgcgtca c.-181
. . . . . . g.5073
gggagttggattctatcctgcaagggcacggggacccacaacgacggctgtccctaaaga c.-121
. . . . . . g.5133
accgttgcgactggtaactgaagtggaagagagtccagatttcttgtgtgtggtcaagga c.-61
. . . . . . g.5193
gacggacaaactttttgtcttcagacgagggagcgttttgtaggctctccaggggttgag c.-1
. . . . | 02 . g.29647
ATGATTCCTGCTTCTGCGAAGGCTCCCCATAAACAGCCTCATAAGCAG | AGCATCAGCATA c.60
M I P A S A K A P H K Q P H K Q | S I S I p.20
. . | 03 . . . . g.31368
GGCAGAGGAACCAGGAAGAGA | GATGAAGATTCAGGGACTGAAGTGGGAGAAGGCACAGAT c.120
G R G T R K R | D E D S G T E V G E G T D p.40
. . . . . . g.31428
GAATGGGCCCAATCCAAAGCCACAGTTAGACCCCCTGACCAGCTGGAGTTGACCGATGCG c.180
E W A Q S K A T V R P P D Q L E L T D A p.60
| 04 . . . . . . g.31684
| GAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAAC c.240
| E L K E E F T R I L T A N N P H A P Q N p.80
. . | 05 . . . . g.35549
ATTGTCAGGTACAGCTTCAAA | GAAGGCACATATAAGCCTATTGGCTTTGTGAACCAACTG c.300
I V R Y S F K | E G T Y K P I G F V N Q L p.100
. . . . . . g.35609
GCAGTTCACTACACCCAGGTTGGGAACCTGATCCCCAAAGACTCAGATGAAGGACGGCGG c.360
A V H Y T Q V G N L I P K D S D E G R R p.120
. . | 06 . . . g.36231
CAGCATTACCGCGATGAATTAGTGGCAG | GTTCTCAGGAGTCTGTCAAGGTGATTTCAGAA c.420
Q H Y R D E L V A G | S Q E S V K V I S E p.140
. . . . . . g.36291
ACAGGAAACCTCGAAGAAGACGAAGAGCCCAAGGAGTTAGAAACTGAGCCTGGGAGTCAA c.480
T G N L E E D E E P K E L E T E P G S Q p.160
. . | 07 . . . . g.36595
ACAGATGTGCCTGCAGCTGGG | GCAGCTGAAAAAGTGACTGAAGAAGAATTGATGACTCCT c.540
T D V P A A G | A A E K V T E E E L M T P p.180
. . . . . . g.36655
AAGCAGCCCAAGGAGAGAAAGCTCACTAACCAGTTCAACTTCAGTGAGAGGGCCTCACAG c.600
K Q P K E R K L T N Q F N F S E R A S Q p.200
. . | 08 . . . . g.37721
ACCTACAACAACCCTGTCCGG | GATCGAGAATGCCAGACGGAGCCTCCTCCCAGGACAAAC c.660
T Y N N P V R | D R E C Q T E P P P R T N p.220
. . | 09 . . . . g.39420
TTTTCAGCCACAGCCAATCAG | TGGGAGATCTATGATGCCTATGTAGAGGAACTTGAGAAG c.720
F S A T A N Q | W E I Y D A Y V E E L E K p.240
. . . . . . g.39480
CAGGAAAAGACCAAAGAGAAGGAGAAGGCAAAGACCCCAGTGGCTAAAAAATCAGGGAAG c.780
Q E K T K E K E K A K T P V A K K S G K p.260
. . . | 10 . . . g.43326
ATGGCCATGAGGAAGCTGACATCTATGGAGTCTCAG | ACTGATGATCTCATCAAATTGTCC c.840
M A M R K L T S M E S Q | T D D L I K L S p.280
. . . . . . g.43386
CAAGCTGCTAAGATCATGGAGCGGATGGTCAACCAGAATACATATGATGACATTGCTCAA c.900
Q A A K I M E R M V N Q N T Y D D I A Q p.300
| 11 . . . . . . g.46968
G | ATTTTAAGTACTATGACGATGCTGCTGATGAATACCGGGACCAGGTGGGTACCCTGCTG c.960
D | F K Y Y D D A A D E Y R D Q V G T L L p.320
. . . . . | 12 g.47326
CCGCTCTGGAAGTTCCAAAATGACAAAGCCAAGCGCCTGTCCGTCACTGCCCTCTGCTG | G c.1020
P L W K F Q N D K A K R L S V T A L C W | p.340
. . . . | 13 . . g.52831
AATCCAAAGTACAGGGATCTGTTTGCAGTGGGATATGGCTCTT | ATGACTTCATGAAGCAG c.1080
N P K Y R D L F A V G Y G S Y | D F M K Q p.360
. . . . . . g.52891
AGCCGGGGCATGCTGCTGCTCTACAGCCTGAAGAACCCCAGCTTCCCTGAGTACATGTTC c.1140
S R G M L L L Y S L K N P S F P E Y M F p.380
. . . . . . g.52951
AGCAGCAACAGCGGCGTCATGTGTCTCGACATCCACGTGGACCACCCCTACCTGGTGGCA c.1200
S S N S G V M C L D I H V D H P Y L V A p.400
. . . . . . g.53011
GTAGGCCACTATGACGGCAACGTGGCCATTTACAACCTCAAGAAGCCCCACTCCCAGCCC c.1260
V G H Y D G N V A I Y N L K K P H S Q P p.420
. . . . . | 14 . g.58305
TCCTTCTGCAGCTCAGCCAAGTCTGGCAAGCACTCAGACCCTGTGTGGCAG | GTCAAGTGG c.1320
S F C S S A K S G K H S D P V W Q | V K W p.440
. . . . . . g.58365
CAGAAGGATGACATGGACCAAAACCTTAACTTCTTCTCTGTGTCATCTGACGGCAGGATT c.1380
Q K D D M D Q N L N F F S V S S D G R I p.460
. . | 15 . . . . g.58563
GTGTCTTGGACTCTCGTGAAG | AGAAAGCTGGTTCACATAGATGTCATCAAGCTGAAGGTG c.1440
V S W T L V K | R K L V H I D V I K L K V p.480
. . . . | 16 . g.59310
GAAGGCAGCACCACGGAAGTTCCTGAGGGGTTGCAGCTGCACCCAGTGG | GTTGTGGCACT c.1500
E G S T T E V P E G L Q L H P V G | C G T p.500
. . . . . . g.59370
GCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAA c.1560
A F D F H K E I D Y M F L V G T E E G K p.520
| 17 . . . . . g.60632
ATCTACAAG | TGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAAC c.1620
I Y K | C S K S Y S S Q F L D T Y D A H N p.540
. . . . . . g.60692
ATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTGCAGC c.1680
M S V D T V S W N P Y H T K V F M S C S p.560
. . . | 18 . . g.60849
TCCGACTGGACAGTGAAGATCTGGGACCACACCATCAA | GACCCCGATGTTCATCTATGAC c.1740
S D W T V K I W D H T I K | T P M F I Y D p.580
. . . . . . g.60909
CTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCA c.1800
L N S A V G D V A W A P Y S S T V F A A p.600
. | 19 . . . . g.63514
GTCACCACAGATGGGAAG | GCCCACATATTTGACTTAGCCATCAACAAGTATGAGGCCATC c.1860
V T T D G K | A H I F D L A I N K Y E A I p.620
. . . . . . g.63574
TGCAACCAGCCTGTGGCGGCCAAAAAGAACAGGCTCACCCACGTGCAGTTCAATCTCATC c.1920
C N Q P V A A K K N R L T H V Q F N L I p.640
. . . . . . g.63634
CACCCCATCATCATTGTGGGCGATGACCGTGGGCACATCATCAGCCTCAAGCTCTCACCC c.1980
H P I I I V G D D R G H I I S L K L S P p.660
. . | 20 . . . . g.66884
AATTTGCGCAAGATGCCAAAG | GAAAAGAAGGGGCAGGAGGTGCAGAAGGGTCCAGCTGTG c.2040
N L R K M P K | E K K G Q E V Q K G P A V p.680
. . . . . . g.66944
GAGATTGCGAAACTGGACAAACTGCTGAACCTGGTGAGGGAAGTGAAAATCAAGACCTGA c.2100
E I A K L D K L L N L V R E V K I K T X p.699
. . . . . . g.67004
ggggctggcctcagtctctgtcccatcgcttgaatacagtactcctagggcttgaccctg c.*60
. . . . . . g.67064
gtacccagcccagccttagcacccagcatgtgaccccactcctgatcaggtcccagcatc c.*120
. . . . . . g.67124
ttcccttcttgttctgttccttaaggtcccagcaccttaccccaggacttggtcttcaac c.*180
. . . . . g.67177
caccattacccctctaactttgcacaaataaacctgtgtagaaacccacccca c.*233
(downstream sequence)
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