(used for variant description)
(last modified January 18, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_130384.2 in the ATRIP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering ATRIP transcript NM_130384.2.
(upstream sequence)
. g.5016
gattggcccctgggcc c.-121
. . . . . . g.5076
aggggcggggcactcgcggcggaggcaagcggcggcgcgcggacggttggtccagttctc c.-61
. . . . . . g.5136
cggcctggcggcaggcaagtctagctcggcgctgtcggatacttggggtgagcggaaagc c.-1
. . . . . . g.5196
ATGGCGGGGACCTCCGCGCCAGGCAGCAAGAGGCGGAGCGAGCCCCCGGCGCCTCGCCCC c.60
M A G T S A P G S K R R S E P P A P R P p.20
. . . . . . g.5256
GGCCCGCCGCCGGGCACCGGGCACCCCCCGAGCAAGCGGGCCCGGGGCTTCTCCGCAGCC c.120
G P P P G T G H P P S K R A R G F S A A p.40
. . . . . . g.5316
GCTGCCCCGGACCCTGACGACCCGTTCGGCGCGCATGGGGACTTCACTGCCGACGACCTG c.180
A A P D P D D P F G A H G D F T A D D L p.60
. . . . . . g.5376
GAGGAGCTTGACACCCTCGCGTCACAGGCCCTGAGCCAATGTCCGGCCGCGGCTCGGGAC c.240
E E L D T L A S Q A L S Q C P A A A R D p.80
| 02. . . . . . g.8382
GTGTCCA | GTGATCATAAGGTCCACAGATTATTAGATGGCATGTCAAAAAATCCTTCAGGG c.300
V S S | D H K V H R L L D G M S K N P S G p.100
. . . . . . g.8442
AAAAACAGAGAAACTGTTCCAATTAAAGATAATTTCGAATTAGAGGTACTTCAGGCACAA c.360
K N R E T V P I K D N F E L E V L Q A Q p.120
. . | 03 . . . . g.10060
TACAAAGAACTTAAAGAAAAG | ATGAAAGTAATGGAAGAAGAAGTTCTCATTAAGAATGGA c.420
Y K E L K E K | M K V M E E E V L I K N G p.140
. . . . . . g.10120
GAAATTAAAATTTTGCGAGACTCACTACATCAGACGGAATCCGTTCTAGAGGAACAGAGA c.480
E I K I L R D S L H Q T E S V L E E Q R p.160
. . . . . . g.10180
AGATCACATTTTCTTCTTGAGCAAGAGAAAACCCAAGCACTCAGTGACAAGGAAAAGGAA c.540
R S H F L L E Q E K T Q A L S D K E K E p.180
. | 04 . . . . . g.12634
TTCTCCAAAAAG | CTCCAATCATTGCAGTCTGAACTCCAGTTTAAAGATGCAGAGATGAAT c.600
F S K K | L Q S L Q S E L Q F K D A E M N p.200
. . . . . . g.12694
GAATTAAGGACAAAGCTCCAGACCAGTGAACGAGCAAATAAACTGGCTGCTCCCTCTGTT c.660
E L R T K L Q T S E R A N K L A A P S V p.220
. | 05 . . . . . g.15594
TCCCATGTCAG | TCCTAGGAAAAACCCTTCTGTGGTTATAAAGCCAGAAGCATGTTCTCCA c.720
S H V S | P R K N P S V V I K P E A C S P p.240
. . . . . . g.15654
CAATTTGGAAAAACATCTTTTCCTACAAAGGAGTCTTTTAGTGCTAACATGTCCCTTCCC c.780
Q F G K T S F P T K E S F S A N M S L P p.260
. . . . | 06 . g.17655
CACCCCTGCCAGACGGAGTCAGGATACAAGCCTCTGGTGGGCAGAGAGG | ATAGTAAGCCC c.840
H P C Q T E S G Y K P L V G R E D | S K P p.280
. . . . . . g.17715
CACAGTCTGAGAGGTGACTCCATAAAACAAGAAGAGGCCCAGAAAAGCTTTGTTGACAGC c.900
H S L R G D S I K Q E E A Q K S F V D S p.300
. . | 07 . . . . g.18107
TGGAGACAGAGATCAAACACTCAAG | GTTCCATTTTGATAAACCTGCTCCTGAAGCAGCCT c.960
W R Q R S N T Q G | S I L I N L L L K Q P p.320
. . . . . . g.18167
TTGATCCCAGGGTCATCCCTAAGCCTTTGCCACCTCCTGAGTAGTAGTTCTGAGTCTCCT c.1020
L I P G S S L S L C H L L S S S S E S P p.340
. . . | 08 . . . g.18420
GCTGGCACCCCCCTGCAGCCACCAGGGTTTGGCAG | TACCTTGGCTGGAATGTCAGGCCTC c.1080
A G T P L Q P P G F G S | T L A G M S G L p.360
. . . . . . g.18480
AGGACCACAGGTTCTTATGATGGGTCATTTTCCCTCTCAGCCCTGAGAGAAGCACAGAAC c.1140
R T T G S Y D G S F S L S A L R E A Q N p.380
. . . . . . g.18540
CTGGCATTCACTGGACTGAATCTGGTTGCCCGGAATGAGTGCTCACGTGATGGAGACCCA c.1200
L A F T G L N L V A R N E C S R D G D P p.400
. . . . . . g.18600
GCAGAGGGAGGCAGAAGGGCCTTCCCACTCTGCCAGCTTCCTGGAGCCGTGCATTTCCTC c.1260
A E G G R R A F P L C Q L P G A V H F L p.420
. . . . . . g.18660
CCCCTTGTACAGTTCTTCATCGGCTTACACTGCCAGGCCCTGCAGGACTTGGCAGCTGCT c.1320
P L V Q F F I G L H C Q A L Q D L A A A p.440
. . . . . . g.18720
AAGAGAAGCGGAGCACCTGGGGACTCACCGACACATTCCTCCTGCGTGAGCTCTGGGGTA c.1380
K R S G A P G D S P T H S S C V S S G V p.460
. . . . . . g.18780
GAGACCAACCCTGAGGACTCAGTGTGCATCCTGGAAGGCTTCTCTGTGACTGCACTTAGC c.1440
E T N P E D S V C I L E G F S V T A L S p.480
. . . . . . g.18840
ATTCTTCAGCACCTGGTGTGCCACAGCGGAGCAGTCGTCTCCCTATTACTGTCAGGAGTG c.1500
I L Q H L V C H S G A V V S L L L S G V p.500
. . . . . . g.18900
GGGGCAGATTCTGCTGCTGGGGAAGGAAACAGGAGCCTGGTTCACAGGCTTAGTGATGGA c.1560
G A D S A A G E G N R S L V H R L S D G p.520
. . . . . . g.18960
GATATGACCTCAGCCCTAAGGGGGGTTGCTGATGACCAAGGACAGCACCCACTGTTGAAG c.1620
D M T S A L R G V A D D Q G Q H P L L K p.540
. . . . . . g.19020
ATGCTTCTTCACCTGTTGGCTTTCTCTTCTGCAGCAACAGGTCACCTTCAAGCCAGTGTC c.1680
M L L H L L A F S S A A T G H L Q A S V p.560
. . . . . . g.19080
CTGACCCAGTGCCTTAAGGTTTTGGTGAAATTAGCCGAAAACACTTCCTGTGATTTCTTG c.1740
L T Q C L K V L V K L A E N T S C D F L p.580
| 09 . . . . . . g.22085
CCCAG | GTTCCAGTGTGTGTTCCAAGTGCTGCCAAAGTGCCTCAGCCCAGAGACACCCCTG c.1800
P R | F Q C V F Q V L P K C L S P E T P L p.600
. . . . . . g.22145
CCTAGCGTGCTGCTGGCTGTTGAGCTCCTCTCCCTGCTGGCGGACCACGACCAGCTGGCA c.1860
P S V L L A V E L L S L L A D H D Q L A p.620
. . | 10 . . . . g.22364
CCTCAGCTCTGTTCCCACTCAG | AAGGCTGCCTCCTGCTGCTGCTGTACATGTACATCACA c.1920
P Q L C S H S E | G C L L L L L Y M Y I T p.640
. . . . . | 11 . g.22873
TCACGGCCTGACAGAGTGGCCTTGGAGACACAATGGCTCCAGCTGGAACAAGAG | GTGGTG c.1980
S R P D R V A L E T Q W L Q L E Q E | V V p.660
. . . . . . g.22933
TGGCTCCTGGCTAAGCTTGGTGTGCAGAGCCCCTTGCCCCCAGTCACTGGCTCCAACTGC c.2040
W L L A K L G V Q S P L P P V T G S N C p.680
. | 12 . . . . . g.23161
CAGTGTAATGTGGAG | GTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACA c.2100
Q C N V E | V V R A L T V M L H R Q W L T p.700
. . . . . . g.23221
GTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTG c.2160
V R R A G G P P R T D Q Q R R T V R C L p.720
. . . . . . g.23281
CGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCAC c.2220
R D T V L L L H G L S Q K D K L F M M H p.740
. . . . . . g.23341
TGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGA c.2280
C V E V L H Q F D Q V M P G V S M L I R p.760
. . | 13 . . . g.23804
GGGCTTCCTGATGTGACGGACTGTGAAG | AGGCAGCCCTGGATGACCTCTGTGCCGCGGAA c.2340
G L P D V T D C E E | A A L D D L C A A E p.780
. . . g.23840
ACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGA c.2376
T D V E D P E V E C G X p.791
. . . . . . g.23900
ggccctgagtgtccagccacatggtggcaccagcaccactcctttccttaccacatcaac c.*60
. . . . g.23941
tgattaaagcagtgaccagcaggaactgcccagagaactgg c.*101
(downstream sequence)
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