(used for variant description)
(last modified May 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000388.3 in the CASR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009058.1, covering CASR transcript NM_000388.3.
(upstream sequence)
. g.5012
caacaggcacct c.-361
. . . . . . g.5072
ggctgcagccaggaaggaccgcacgccctttcgcgcaggagagtggaaggagggagctgt c.-301
. . . . . . | 02 g.75267
ttgccagcaccgaggtcttgcggcacaggcaacgcttgacctgagtcttgcagaatga | aa c.-241
. . . . . . g.75327
ggcatcacaggaggcctctgcatgatgtggcttccaaagactcaaggaccacccacatta c.-181
. . . . . . g.75387
caagtctggattgaggaaggcagaaatggagattcaaacaccacgtcttctattatttta c.-121
. . . . . . g.75447
ttaatcaatctgtagacatgtgtccccactgcagggagtgaactgctccaagggagaaac c.-61
. . . . . . g.75507
ttctgggagcctccaaactcctagctgtctcatcccttgccctggagagacggcagaacc c.-1
. . . . . . g.75567
ATGGCATTTTATAGCTGCTGCTGGGTCCTCTTGGCACTCACCTGGCACACCTCTGCCTAC c.60
M A F Y S C C W V L L A L T W H T S A Y p.20
. . . . . . g.75627
GGGCCAGACCAGCGAGCCCAAAAGAAGGGGGACATTATCCTTGGGGGGCTCTTTCCTATT c.120
G P D Q R A Q K K G D I I L G G L F P I p.40
. . . . . . g.75687
CATTTTGGAGTAGCAGCTAAAGATCAAGATCTCAAATCAAGGCCGGAGTCTGTGGAATGT c.180
H F G V A A K D Q D L K S R P E S V E C p.60
| 03 . . . . . . g.78453
ATCAG | GTATAATTTCCGTGGGTTTCGCTGGTTACAGGCTATGATATTTGCCATAGAGGAG c.240
I R | Y N F R G F R W L Q A M I F A I E E p.80
. . . . . . g.78513
ATAAACAGCAGCCCAGCCCTTCTTCCCAACTTGACGCTGGGATACAGGATATTTGACACT c.300
I N S S P A L L P N L T L G Y R I F D T p.100
. . . . . . g.78573
TGCAACACCGTTTCTAAGGCCTTGGAAGCCACCCTGAGTTTTGTTGCTCAAAACAAAATT c.360
C N T V S K A L E A T L S F V A Q N K I p.120
. . . . . . g.78633
GATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACATTCCCTCTACGATTGCT c.420
D S L N L D E F C N C S E H I P S T I A p.140
. . . . . . g.78693
GTGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTCTTC c.480
V V G A T G S G V S T A V A N L L G L F p.160
. | 04 . . . . . g.82893
TACATTCCCCAG | GTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTC c.540
Y I P Q | V S Y A S S S R L L S N K N Q F p.180
. . . . . . g.82953
AAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATC c.600
K S F L R T I P N D E H Q A T A M A D I p.200
. . . . . . g.83013
ATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGG c.660
I E Y F R W N W V G T I A A D D D Y G R p.220
. . . . . . g.83073
CCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGT c.720
P G I E K F R E E A E E R D I C I D F S p.240
. . . . . . g.83133
GAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAA c.780
E L I S Q Y S D E E E I Q H V V E V I Q p.260
. . . . . . g.83193
AATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATC c.840
N S T A K V I V V F S S G P D L E P L I p.280
. . . . . . g.83253
AAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCC c.900
K E I V R R N I T G K I W L A S E A W A p.300
. . . . . . g.83313
AGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTC c.960
S S S L I A M P Q Y F H V V G G T I G F p.320
. . . . . . g.83373
GCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGG c.1020
A L K A G Q I P G F R E F L K K V H P R p.340
. . . . . . g.83433
AAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTC c.1080
K S V H N G F A K E F W E E T F N C H L p.360
. . . . . . g.83493
CAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGT c.1140
Q E G A K G P L P V D T F L R G H E E S p.380
. . . . . . g.83553
GGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAAC c.1200
G D R F S N S S T A F R P L C T G D E N p.400
. . . . . . g.83613
ATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTG c.1260
I S S V E T P Y I D Y T H L R I S Y N V p.420
. . . . . . g.83673
TACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGG c.1320
Y L A V Y S I A H A L Q D I Y T C L P G p.440
. . . . . | 05. g.97132
AGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAG | GTC c.1380
R G L F T N G S C A D I K K V E A W Q | V p.460
. . . . . . g.97192
CTGAAGCACCTACGGCATCTAAACTTTACAAACAATATGGGGGAGCAGGTGACCTTTGAT c.1440
L K H L R H L N F T N N M G E Q V T F D p.480
. . . . . . g.97252
GAGTGTGGTGACCTGGTGGGGAACTATTCCATCATCAACTGGCACCTCTCCCCAGAGGAT c.1500
E C G D L V G N Y S I I N W H L S P E D p.500
. . . . . . g.97312
GGCTCCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCCAAGAAGGGAGAAAGA c.1560
G S I V F K E V G Y Y N V Y A K K G E R p.520
. . . . | 06 . g.103442
CTCTTCATCAACGAGGAGAAAATCCTGTGGAGTGGGTTCTCCAGGGAG | GTGCCCTTCTCC c.1620
L F I N E E K I L W S G F S R E | V P F S p.540
. . . . . . g.103502
AACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACC c.1680
N C S R D C L A G T R K G I I E G E P T p.560
. . . . . | 07 . g.105012
TGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAG | ATGCCAGT c.1740
C C F E C V E C P D G E Y S D E T D | A S p.580
. . . . . . g.105072
GCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCC c.1800
A C N K C P D D F W S N E N H T S C I A p.600
. . . . . . g.105132
AAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCC c.1860
K E I E F L S W T E P F G I A L T L F A p.620
. . . . . . g.105192
GTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACA c.1920
V L G I F L T A F V L G V F I K F R N T p.640
. . . . . . g.105252
CCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGC c.1980
P I V K A T N R E L S Y L L L F S L L C p.660
. . . . . . g.105312
TGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGC c.2040
C F S S S L F F I G E P Q D W T C R L R p.680
. . . . . . g.105372
CAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAAC c.2100
Q P A F G I S F V L C I S C I L V K T N p.700
. . . . . . g.105432
CGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGG c.2160
R V L L V F E A K I P T S F H R K W W G p.720
. . . . . . g.105492
CTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTG c.2220
L N L Q F L L V F L C T F M Q I V I C V p.740
. . . . . . g.105552
ATCTGGCTCTACACCGCGCCCCCCTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATC c.2280
I W L Y T A P P S S Y R N Q E L E D E I p.760
. . . . . . g.105612
ATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACC c.2340
I F I T C H E G S L M A L G F L I G Y T p.780
. . . . . . g.105672
TGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAAC c.2400
C L L A A I C F F F A F K S R K L P E N p.800
. . . . . . g.105732
TTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCC c.2460
F N E A K F I T F S M L I F F I V W I S p.820
. . . . . . g.105792
TTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCC c.2520
F I P A Y A S T Y G K F V S A V E V I A p.840
. . . . . . g.105852
ATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATT c.2580
I L A A S F G L L A C I F F N K I Y I I p.860
. . . . . . g.105912
CTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCT c.2640
L F K P S R N T I E E V R C S T A A H A p.880
. . . . . . g.105972
TTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGC c.2700
F K V A A R A T L R R S N V S R K R S S p.900
. . . . . . g.106032
AGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGC c.2760
S L G G S T G S T P S S S I S S K S N S p.920
. . . . . . g.106092
GAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAG c.2820
E D P F P Q P E R Q K Q Q Q P L A L T Q p.940
. . . . . . g.106152
CAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCC c.2880
Q E Q Q Q Q P L T L P Q Q Q R S Q Q Q P p.960
. . . . . . g.106212
AGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGAT c.2940
R C K Q K V I F G S G T V T F S L S F D p.980
. . . . . . g.106272
GAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCC c.3000
E P Q K N A M A H R N S T H Q N S L E A p.1000
. . . . . . g.106332
CAGAAAAGCAGCGATACGCTGACCCGACACCAGCCATTACTCCCGCTGCAGTGCGGGGAA c.3060
Q K S S D T L T R H Q P L L P L Q C G E p.1020
. . . . . . g.106392
ACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAG c.3120
T D L D L T V Q E T G L Q G P V G G D Q p.1040
. . . . . . g.106452
CGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAG c.3180
R P E V E D P E E L S P A L V V S S S Q p.1060
. . . . . g.106509
AGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAA c.3237
S F V I S G G G S T V T E N V V N S X p.1078
. . . . . . g.106569
aatggaaggagaagactgggctagggagaatgcagagaggtttcttggggtcccagggaa c.*60
. . . . . . g.106629
gaggaatcgccccagactcctttcctctgaggaagaagggataatagacacatcaaatgc c.*120
. . . . . . g.106689
cccgaatttagtcacaccatcttaaatgacagtgaattgacccatgttccctttaaaatt c.*180
. . . . . . g.106749
aaaaaaaagaagagccttgtgtttctgtggttgcatttgtcaaagcattgagatctccac c.*240
. . . . . . g.106809
ggtcagatttgctgttcacccacatctaatgtctcttcctctgttctatcccacccaaca c.*300
. . . . . . g.106869
gctcagagatgaaactatggctttaaactaccctccagagtgtgcagactgatgggacat c.*360
. . . . . . g.106929
caaatttgccaccactagagctgagagtctgaaagacagaatgtcaccagtcctgcccaa c.*420
. . . . . . g.106989
tgccttgacaacagactgaattttaaatgttcacaacataaggagaatgtatctcctcct c.*480
. . . . . . g.107049
atttatgaaaaccatatgatattttgtctcctacctgctgctgctattatgtaacatcca c.*540
. . . . . . g.107109
gaaggtttgcacccctcctataccatatgtctgcttctgtccaggacatgatactgatgc c.*600
. . . . . . g.107169
catgtttagattccaggatcacaagaatcacctcaaattgttaggaagggactgcataaa c.*660
. . . . . . g.107229
ccaatgagctgtatctgtaattaatattcctatatgtagctttatccttaggaaaatgct c.*720
. . . . . . g.107289
tctgttgtaatagtccatggacaatataaactgaaaaatgtcagtctggtttatataagg c.*780
. . . . . . g.107349
cagtattattgagctctatttccccaccccactatcctcactcccataagctaagcctta c.*840
. . . . . . g.107409
tgtgagccccttcagggactcaagggtccagaagtccctcccatctctaccccaaagaat c.*900
. . . . . . g.107469
tcctgaagccagatccaccctatccctgtacagagtaagttctcaattattggcctgcta c.*960
. . . . . . g.107529
atagctgctagggtaggaaagcgtggttccaagaaagatccaccctcaaatgtcagagct c.*1020
. . . . . . g.107589
atgttccctccagcagtggtattaatactgccggtcacccaggctctggagccagagaga c.*1080
. . . . . . g.107649
cagaccggggttcaagccatggcttcgtcatttgcaagctgagtgactgtaggcagggaa c.*1140
. . . . . . g.107709
ccttaacctctctaagccacagcttcttcatctttaaaataaggataataatcattcttt c.*1200
. . . . . . g.107769
cccctcagagctcttatgtggattaaacgagataatgtatataaagtactttagcctggt c.*1260
. . . . g.107815
acctagcacacaataagcattcaataaatattagttaatattatta c.*1306
(downstream sequence)
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