Canonical Allele Identifier: CA9135101
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330439
dbSNP Id: rs753624268
gnomAD v2: 19-7117188-C-T
gnomAD v3: 19-7117177-C-T
gnomAD v4: 19-7117177-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117177C>T , CM000681.2:g.7117177C>T GRCh38
NC_000019.9:g.7117188C>T , CM000681.1:g.7117188C>T GRCh37
NC_000019.8:g.7068188C>T NCBI36
NG_008852.2:g.181824G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.4028G>A MANE Select ENSP00000303830.4:p.Arg1343Gln
ENST00000302850.9:c.4028G>A ENSP00000303830.4:p.Arg1343Gln
ENST00000341500.9:c.3992G>A ENSP00000342838.4:p.Arg1331Gln
NM_000208.2:c.4028G>A NP_000199.2:p.Arg1343Gln
NM_000208.3:c.4028G>A NP_000199.2:p.Arg1343Gln
NM_001079817.1:c.3992G>A NP_001073285.1:p.Arg1331Gln
NM_001079817.2:c.3992G>A NP_001073285.1:p.Arg1331Gln
XM_011527988.1:c.4103G>A XP_011526290.1:p.Arg1368Gln
XM_011527989.1:c.4067G>A XP_011526291.1:p.Arg1356Gln
XM_011527988.2:c.4025G>A XP_011526290.2:p.Arg1342Gln
XM_011527989.3:c.3989G>A XP_011526291.2:p.Arg1330Gln
NM_000208.4:c.4028G>A MANE Select NP_000199.2:p.Arg1343Gln
NM_001079817.3:c.3992G>A NP_001073285.1:p.Arg1331Gln