(used for variant description)
(last modified February 8, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000145.3 in the FSHR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering FSHR transcript NM_000145.3.
(upstream sequence)
. . . . . g.5050
agttctcaagtcagatctcttctcataagggcactgtgtggagcttctga c.-61
. . . . . . g.5110
gatctgtggaggtttttctctgcaaatgcaggaagaaatcaggtggatggatgcataatt c.-1
. . . . . . g.5170
ATGGCCCTGCTCCTGGTCTCTTTGCTGGCATTCCTGAGCTTGGGCTCAGGATGTCATCAT c.60
M A L L L V S L L A F L S L G S G C H H p.20
. . . . . . g.5230
CGGATCTGTCACTGCTCTAACAGGGTTTTTCTCTGCCAAGAGAGCAAGGTGACAGAGATT c.120
R I C H C S N R V F L C Q E S K V T E I p.40
. . . | 02 . . . g.91265
CCTTCTGACCTCCCGAGGAATGCCATTGAACT | GAGGTTTGTCCTCACCAAGCTTCGAGTC c.180
P S D L P R N A I E L | R F V L T K L R V p.60
. . . . | 03 . . g.139383
ATCCAAAAAGGTGCATTTTCAGGATTTGGGGACCTGGAGAAAAT | AGAGATCTCTCAGAAT c.240
I Q K G A F S G F G D L E K I | E I S Q N p.80
. . . . . | 04 g.141965
GATGTCTTGGAGGTGATAGAGGCAGATGTGTTCTCCAACCTTCCCAAATTACATGAAAT | T c.300
D V L E V I E A D V F S N L P K L H E I | p.100
. . . . . . g.142025
AGAATTGAAAAGGCCAACAACCTGCTCTACATCAACCCTGAGGCCTTCCAGAACCTTCCC c.360
R I E K A N N L L Y I N P E A F Q N L P p.120
. | 05 . . . . . g.168936
AACCTTCAATATCT | GTTAATATCCAACACAGGTATTAAGCACCTTCCAGATGTTCACAAG c.420
N L Q Y L | L I S N T G I K H L P D V H K p.140
. . | 06 . . . . g.170507
ATTCATTCTCTCCAAAAAGTTTTACT | TGACATTCAAGATAACATAAACATCCACACAATT c.480
I H S L Q K V L L | D I Q D N I N I H T I p.160
. . . . | 07 . . g.176377
GAAAGAAATTCTTTCGTGGGGCTGAGCTTTGAAAGTGTGATTCT | ATGGCTGAATAAGAAT c.540
E R N S F V G L S F E S V I L | W L N K N p.180
. . . . . | 08 . g.176548
GGGATTCAAGAAATACACAACTGTGCATTCAATGGAACCCAACTAGATGAGCT | GAATCTA c.600
G I Q E I H N C A F N G T Q L D E L | N L p.200
. . . . . . g.176608
AGCGATAATAATAATTTAGAAGAATTGCCTAATGATGTTTTCCACGGAGCCTCTGGACCA c.660
S D N N N L E E L P N D V F H G A S G P p.220
| 09 . . . . . g.190696
GTCATTCT | AGATATTTCAAGAACAAGGATCCATTCCCTGCCTAGCTATGGCTTAGAAAAT c.720
V I L | D I S R T R I H S L P S Y G L E N p.240
. . . . . . g.190756
CTTAAGAAGCTGAGGGCCAGGTCGACTTACAACTTAAAAAAGCTGCCTACTCTGGAAAAG c.780
L K K L R A R S T Y N L K K L P T L E K p.260
. . . . . . g.190816
CTTGTCGCCCTCATGGAAGCCAGCCTCACCTATCCCAGCCATTGCTGTGCCTTTGCAAAC c.840
L V A L M E A S L T Y P S H C C A F A N p.280
. | 10 . . . . . g.195607
TGGAGACGGCAAAT | CTCTGAGCTTCATCCAATTTGCAACAAATCTATTTTAAGGCAAGAA c.900
W R R Q I | S E L H P I C N K S I L R Q E p.300
. . . . . . g.195667
GTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCTCTGGCAGAAGACAATGAGTCC c.960
V D Y M T Q A R G Q R S S L A E D N E S p.320
. . . . . . g.195727
AGCTACAGCAGAGGATTTGACATGACGTACACTGAGTTTGACTATGACTTATGCAATGAA c.1020
S Y S R G F D M T Y T E F D Y D L C N E p.340
. . . . . . g.195787
GTGGTTGACGTGACCTGCTCCCCTAAGCCAGATGCATTCAACCCATGTGAAGATATCATG c.1080
V V D V T C S P K P D A F N P C E D I M p.360
. . . . . . g.195847
GGGTACAACATCCTCAGAGTCCTGATATGGTTTATCAGCATCCTGGCCATCACTGGGAAC c.1140
G Y N I L R V L I W F I S I L A I T G N p.380
. . . . . . g.195907
ATCATAGTGCTAGTGATCCTAACTACCAGCCAATATAAACTCACAGTCCCCAGGTTCCTT c.1200
I I V L V I L T T S Q Y K L T V P R F L p.400
. . . . . . g.195967
ATGTGCAACCTGGCCTTTGCTGATCTCTGCATTGGAATCTACCTGCTGCTCATTGCATCA c.1260
M C N L A F A D L C I G I Y L L L I A S p.420
. . . . . . g.196027
GTTGATATCCATACCAAGAGCCAATATCACAACTATGCCATTGACTGGCAAACTGGGGCA c.1320
V D I H T K S Q Y H N Y A I D W Q T G A p.440
. . . . . . g.196087
GGCTGTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTACACTCTG c.1380
G C D A A G F F T V F A S E L S V Y T L p.460
. . . . . . g.196147
ACAGCTATCACCTTGGAAAGATGGCATACCATCACGCATGCCATGCAGCTGGACTGCAAG c.1440
T A I T L E R W H T I T H A M Q L D C K p.480
. . . . . . g.196207
GTGCAGCTCCGCCATGCTGCCAGTGTCATGGTGATGGGCTGGATTTTTGCTTTTGCAGCT c.1500
V Q L R H A A S V M V M G W I F A F A A p.500
. . . . . . g.196267
GCCCTCTTTCCCATCTTTGGCATCAGCAGCTACATGAAGGTGAGCATCTGCCTGCCCATG c.1560
A L F P I F G I S S Y M K V S I C L P M p.520
. . . . . . g.196327
GATATTGACAGCCCTTTGTCACAGCTGTATGTCATGTCCCTCCTTGTGCTCAATGTCCTG c.1620
D I D S P L S Q L Y V M S L L V L N V L p.540
. . . . . . g.196387
GCCTTTGTGGTCATCTGTGGCTGCTATATCCACATCTACCTCACAGTGCGGAACCCCAAC c.1680
A F V V I C G C Y I H I Y L T V R N P N p.560
. . . . . . g.196447
ATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAGCGCATGGCCATGCTCATCTTCACT c.1740
I V S S S S D T R I A K R M A M L I F T p.580
. . . . . . g.196507
GACTTCCTCTGCATGGCACCCATTTCTTTCTTTGCCATTTCTGCCTCCCTCAAGGTGCCC c.1800
D F L C M A P I S F F A I S A S L K V P p.600
. . . . . . g.196567
CTCATCACTGTGTCCAAAGCAAAGATTCTGCTGGTTCTGTTTCACCCCATCAACTCCTGT c.1860
L I T V S K A K I L L V L F H P I N S C p.620
. . . . . . g.196627
GCCAACCCCTTCCTCTATGCCATCTTTACCAAAAACTTTCGCAGAGATTTCTTCATTCTG c.1920
A N P F L Y A I F T K N F R R D F F I L p.640
. . . . . . g.196687
CTGAGCAAGTGTGGCTGCTATGAAATGCAAGCCCAAATTTATAGGACAGAAACTTCATCC c.1980
L S K C G C Y E M Q A Q I Y R T E T S S p.660
. . . . . . g.196747
ACTGTCCACAACACCCATCCAAGGAATGGCCACTGCTCTTCAGCTCCCAGAGTCACCAGT c.2040
T V H N T H P R N G H C S S A P R V T S p.680
. . . . g.196795
GGTTCCACTTACATACTTGTCCCTCTAAGTCATTTAGCCCAAAACTAA c.2088
G S T Y I L V P L S H L A Q N X p.695
. . . . . . g.196855
aacacaatgtgaaaatgtatctgagtattgaatgataattcagtcttgcctttgaagggt c.*60
. . . . . . g.196915
atgtcacaaagagctgacagtgcttctacacatttcatctaatttaatattcctggcata c.*120
. . . . . . g.196975
cctttaaggtaaattggtcaggaactattaattccatgtgatacattaggaagctgaatt c.*180
. . . . . . g.197035
attagtaacaacaataataattaaagaatgcaatactgtattacatattttatccttata c.*240
. . . . . . g.197095
tatgttatttttgcacgttatgttcaaagtgcttttgttcagatatctcaagtgatccct c.*300
. . . . . . g.197155
gttaaataagcaggacagggattattcttggagttttacaaatgaggaaaccacgactca c.*360
. . . . . . g.197215
aagagttaagtgacttgttcaaaattgtttagtttgtaagaggcagagccaggattaggt c.*420
. . . . . . g.197275
attccgactcccagagaatttcccagagaagcaccatggtattcattcattcattcattc c.*480
. . . . . . g.197335
aacaaatattaattgaacacccatctgaagcctttgtaatgcgtcagtgtggataggctg c.*540
. . . g.197371
aaatacatttcccagatttcccttcctcatgtgttt c.*576
(downstream sequence)
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