(used for variant description)
(last modified November 27, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_002225.3 in the IVD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering IVD transcript NM_002225.3.
(upstream sequence)
. . . g.5034
tttccgcagttaggggctgctatttcaacgcagg c.-301
. . . . . . g.5094
gagataaaaagaaaaaaacacttgctcttctaccccgctaaaaacactcatcctagggag c.-241
. . . . . . g.5154
cacgccagcatttgcagcgttcggggcagggccactcggcctgcggccgttgcactggct c.-181
. . . . . . g.5214
ggaagctggcaggcgatcacggttgattggctcgggtgcggtccaagggcagcaacgcct c.-121
. . . . . . g.5274
tcggcgggccgcctagggtgattggctgctgcagcccaccccctagccggtttggtgggc c.-61
. . . . . . g.5334
ggcgaagcctggattggtggagctaagagctggctcagtttcagcgctggctcttcgtgc c.-1
. . . . . . g.5394
ATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTG c.60
M A E M A T A T R L L G W R V A S W R L p.20
. . . . . . g.5454
CGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGAT c.120
R P P L A G F V S Q R A H S L L P V D D p.40
. . . | 02 . . . g.7178
GCAATCAATGGGCTAAGCGAGGAGCAGAGGCAG | CTTCGTCAGACCATGGCTAAGTTCCTT c.180
A I N G L S E E Q R Q | L R Q T M A K F L p.60
. . . . . . g.7238
CAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTG c.240
Q E H L A P K A Q E I D R S N E F K N L p.80
| 03 . . . . . | 04 . g.10146
CGA | GAATTTTGGAAGCAGCTGGGGAACCTGGGCGTATTGGGCATCACAGCCCCTG | TTCAG c.300
R | E F W K Q L G N L G V L G I T A P V | Q p.100
. . . . . . g.10206
TATGGCGGCTCCGGCCTGGGCTACCTGGAGCATGTGCTGGTGATGGAGGAGATATCCCGA c.360
Y G G S G L G Y L E H V L V M E E I S R p.120
. . . . . . g.10266
GCTTCCGGAGCAGTGGGGCTCAGTTACGGTGCCCACTCCAACCTCTGCATCAACCAGCTT c.420
A S G A V G L S Y G A H S N L C I N Q L p.140
. . . . | 05 . . g.10788
GTACGCAATGGGAATGAGGCCCAGAAAGAGAAGTATCTCCCGAAG | CTGATCAGTGGTGAG c.480
V R N G N E A Q K E K Y L P K | L I S G E p.160
. . . . . . g.10848
TACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGCTCTGATGTTGTCTCTATGAAG c.540
Y I G A L A M S E P N A G S D V V S M K p.180
. | 06 . . . . g.11109
CTCAAAGCGGAAAAGAAAG | GAAATCACTACATCCTGAATGGCAACAAGTTCTGGATCACT c.600
L K A E K K G | N H Y I L N G N K F W I T p.200
. . . . . . g.11169
AATGGCCCTGATGCTGACGTCCTGATTGTCTATGCCAAGACAGATCTGGCTGCTGTGCCA c.660
N G P D A D V L I V Y A K T D L A A V P p.220
. . . | 07 . . . g.12528
GCTTCTCGGGGCATCACAGCCTTCATTGTGGAGAAG | GGTATGCCTGGCTTTAGCACCTCT c.720
A S R G I T A F I V E K | G M P G F S T S p.240
. . . . . . g.12588
AAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTAACACCTGTGAGCTAATCTTTGAAGAC c.780
K K L D K L G M R G S N T C E L I F E D p.260
. | 08 . . . . . g.14449
TGCAAGATTCCTG | CTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTACGTGCTGATG c.840
C K I P A | A N I L G H E N K G V Y V L M p.280
. . . . | 09. . g.14927
AGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGG | GCTCATGCAAGCG c.900
S G L D L E R L V L A G G P L G | L M Q A p.300
. . . . . . g.14987
GTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGC c.960
V L D H T I P Y L H V R E A F G Q K I G p.320
| 10 . . . . . g.15642
CACTTCCAG | TTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTCGG c.1020
H F Q | L M Q G K M A D M Y T R L M A C R p.340
. . . . . | 11 . g.15809
CAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAG | GACTGT c.1080
Q Y V Y N V A K A C D E G H C T A K | D C p.360
. . . . . . g.15869
GCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAG c.1140
A G V I L Y S A E C A T Q V A L D G I Q p.380
| 12. . . . . . g.17696
TGTTTTG | GTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTTCGAGATGCC c.1200
C F G | G N G Y I N D F P M G R F L R D A p.400
. . . . . . g.17756
AAGCTGTATGAGATAGGGGCTGGGACCAGCGAGGTGAGGCGGCTGGTCATCGGCAGAGCC c.1260
K L Y E I G A G T S E V R R L V I G R A p.420
. . g.17777
TTCAATGCAGACTTTCACTAG c.1281
F N A D F H X p.426
. . . . . . g.17837
tcctgagacccttcgcccccttttcctgcacctagtggcctttcttgggaagtagagatg c.*60
. . . . . . g.17897
tggcggctttcccaccctgcccacagcaggccctcctgcccagctgctcttgtcagccct c.*120
. . . . . . g.17957
ctggcctctggatgaggttgagttctccacaacagctcccaagcatcatgggcctcgcag c.*180
. . . . . . g.18017
ccgggcctgtgccacggctagtgttgtgtgatttaaaatggactcagcaggaagcatatt c.*240
. . . . . . g.18077
gtctggggattgttgggacaggttttggtgactctgtgcccttgctctctaacttctgag c.*300
. . . . . . g.18137
cccacctcccagggtaggcacctgggggcatgcaggtgcccacctcccagggtaggcacc c.*360
. . . . . . g.18197
tgggggcatgcaggtacccacctctttctcttgggtgaggctctggcaaggagatctctc c.*420
. . . . . . g.18257
tgctcaagcacagcagaatcatggcccctctccatgaattggaacttggtacaggttaag c.*480
. . . . . . g.18317
tatccctaatcctgaaatctgaaacacttgtggttccaagcattttggataaggcaaatt c.*540
. . . . . . g.18377
caactttcagtctcttttctgggggaaaaaaataataaacctagcctagccaggcgtggt c.*600
. . . . . . g.18437
ggctcatgcttgtaatcccagcacttcaggaggctgagatgggtggatcacctgaggtca c.*660
. . . . . . g.18497
ggagttcaagaccagcctggccaacatgtggaaacctcgcctcaactaaaaatagaaaaa c.*720
. . . . . . g.18557
aattagttgggcatggtggtgggcacctgtaatcccagctacttcaggaggctgaggcag c.*780
. . . . . . g.18617
gagaattacttgaacccaggaggcggacgttgcagtgagccgagcttgtgccattgcact c.*840
. . . . . . g.18677
ccagcctgggcgacaagagcaaaactcttcaaaaaacaaaacaaaacaaaaaaaccctgg c.*900
. . . . . . g.18737
cccttgtttcttccagtttctagaggtatcagctcctagcagcttatgaacacatatgct c.*960
. . . . . . g.18797
tgcttggccaggcaaggtggtgtgtgcctgtaatcccagcactttgggaggccaaggcag c.*1020
. . . . . . g.18857
gtggatcacttgcagtcaggagttcaagaccagcctgtccaacgtggtgaaaccccatct c.*1080
. . . . . . g.18917
ctactaaaaatacaaaaattagccaggggtggtggtgcacgtctgtaatcccagctactc c.*1140
. . . . . . g.18977
aggaggctgaggcaggagaatcacttgaacccgggaggtggaggttgcaatgagccaata c.*1200
. . . . . . g.19037
tgacaccgctgcagtccagcctgggccatagagtgagactctgtctcaaaaaaggaaaga c.*1260
. . . . . . g.19097
aaaataggctgggcacagtgactcatgcctgtaatcccaacactttgggaggccgaggca c.*1320
. . . . . . g.19157
ggtggatcacgaggtcaggagttcaagaccagcctggccaagatggtaaaacctcgtctc c.*1380
. . . . . . g.19217
tactaaaaatacaaaaattagccaggtgtggtggcaggctcctgtaatcccagctactca c.*1440
. . . . . . g.19277
ggaggctgaggcagagaattgcttgaacccgggaggcagagtttgcagtgagccaagatc c.*1500
. . . . . . g.19337
acaccactgcactccagcttggacgacagagcgagactctgtctcaaaaaataataggcc c.*1560
. . . . . . g.19397
aggcatggtggctcaacgtctgtaatcccagcactttgggaggccgaggcgggcagatca c.*1620
. . . . . . g.19457
caaggtcaggagttcgagaccagcctgacgaccaacatggtgaaacctcgtctctactaa c.*1680
. . . . . . g.19517
aaatacaaaaattagccaggcctggtggcacgcgcctgtaatcccagttacacagaagac c.*1740
. . . . . . g.19577
tgaggcaggagaatcgcttgaacgcaggaggcagaggttgcaggagctgagatcgcgcca c.*1800
. . . . . . g.19637
ttgcactccagcctgggcaacagagtgagactctgtctcaaaaaataataataaaataaa c.*1860
. . . . . . g.19697
tgaacacacatgctgctgagtccgcagggggggcagagcagaggacagcgtgcttttgtg c.*1920
. . . . . . g.19757
tactgttggaagactggctcctcctgtacagcacctctgagcccttgtgcaccgccctgc c.*1980
. . . . . . g.19817
cacgggcaccatccagtcctggccgtgtgaccacccacagctgactgggcagcaggcaca c.*2040
. . . . . . g.19877
ggccctacccgagcaggccggagttggctcgcatgactccagctgaggctgcctgtgtac c.*2100
. . . . . . g.19937
atttctccagataccctatggctaattttgttataactgcacagtggctgctgccatttt c.*2160
. . . . . . g.19997
gtattaaatatattgtgaaacaaacctatctggggagaagcaatctacttgccgctgctt c.*2220
. . . . . . g.20057
cctgtctggatccagcttgtgtccttggagagtggctggcccaggtcctattcctgtcct c.*2280
. . . . . . g.20117
ccagcccgttctttcatgagggacaggaaggtaaaatcagcccttaggagagaggtctca c.*2340
. . . . . . g.20177
gcctccctttcccagatctcccagtgagttttaaaggaagcagggagcccagagtgctaa c.*2400
. . . . . . g.20237
gttcttacagccagaaggaagcttatagatttctgaaaaccgcccctttgtttttaaaaa c.*2460
. . . . . . g.20297
gatcaacacaatttgactttctcaaggtcaaaacgaactagaatccagatctgctcatgg c.*2520
. . . . . . g.20357
caaaaatgggggtgttctgagaattccagctttgggccgcactgtacagcagtctggata c.*2580
. . . . . . g.20417
gagtgtgatctgagaagggaatgggtctgggttgttccaccccttccgagttccaaaaag c.*2640
. . . . . . g.20477
agggaactggttttcttggttctcagcccagcagcacctatcctggctcttggtcctggc c.*2700
. . . . . . g.20537
ctgcagccaagtgctgttcctagcctgaggcttgagacaggtggggttggctcctcacca c.*2760
. . . . . . g.20597
accccagttccgtcccatcctgagggcaagatcctgggctcataggcagtccctttcact c.*2820
. . . . . . g.20657
tccttgtcttgctccctgctatgttggagatgaatgtgactaaaagggccatcttgctgg c.*2880
. . . . . . g.20717
cttaatgtgtggctggagagaccagcctggagacaatgtggcaaaatggggcgcttcatc c.*2940
. . . . . . g.20777
cagtctgtctaagccctgtcgacttggggaggtgatttctttcctggttctatatgtgaa c.*3000
. . . . . g.20827
gcaaaataaatgttttaaaattaaaagcaaaaaaaacaaaatgaaccatg c.*3050
(downstream sequence)
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