Canonical Allele Identifier: CA124262
Gene: INSR HGNC NCBI
ClinVar RCV:
RCV000015822
RCV000175131
RCV000344820
RCV000445519
RCV000515071
RCV001132183
RCV001132184
RCV001258250
ClinVar Variation:
14707
dbSNP:
1799816
gnomAD v2:
19:7125518 C / T
gnomAD v3:
19:7125507 C / T
gnomAD v4:
chr19-7125507-C-T
Joint Max Group AF 0.02198545 (SAS)
Genomes Max Group AF 0.01477537 (SAS)
Exomes Max Group AF 0.02223721 (SAS)
MyVariant.info:
GRCh38 chr19:g.7125507C>T
GRCh37 chr19:g.7125518C>T
Revel Score:
ENST00000302850 (MANE Select) 0.634
ENST00000341500 0.634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125507C>T , CM000681.2:g.7125507C>T GRCh38
NC_000019.9:g.7125518C>T , CM000681.1:g.7125518C>T GRCh37
NC_000019.8:g.7076518C>T NCBI36
NG_008852.2:g.173494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3034G>A MANE Select ENSP00000303830.4:p.Val1012Met
ENST00000302850.9:c.3034G>A ENSP00000303830.4:p.Val1012Met
ENST00000341500.9:c.2998G>A ENSP00000342838.4:p.Val1000Met
NM_000208.2:c.3034G>A NP_000199.2:p.Val1012Met
NM_000208.3:c.3034G>A NP_000199.2:p.Val1012Met
NM_001079817.1:c.2998G>A NP_001073285.1:p.Val1000Met
NM_001079817.2:c.2998G>A NP_001073285.1:p.Val1000Met
XM_011527988.1:c.3109G>A XP_011526290.1:p.Val1037Met
XM_011527989.1:c.3073G>A XP_011526291.1:p.Val1025Met
XM_011527988.2:c.3031G>A XP_011526290.2:p.Val1011Met
XM_011527989.3:c.2995G>A XP_011526291.2:p.Val999Met
NM_000208.4:c.3034G>A MANE Select NP_000199.2:p.Val1012Met
NM_001079817.3:c.2998G>A NP_001073285.1:p.Val1000Met
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