Canonical Allele Identifier: CA403667590
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 3061041
ClinVar RCV Id: RCV004542613
dbSNP Id: rs1263612053
gnomAD v4: 19-7172304-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172304C>G , CM000681.2:g.7172304C>G GRCh38
NC_000019.9:g.7172315C>G , CM000681.1:g.7172315C>G GRCh37
NC_000019.8:g.7123315C>G NCBI36
NG_008852.2:g.126697G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1254G>C MANE Select ENSP00000303830.4:p.Glu418Asp
ENST00000302850.9:c.1254G>C ENSP00000303830.4:p.Glu418Asp
ENST00000341500.9:c.1254G>C ENSP00000342838.4:p.Glu418Asp
ENST00000598216.1:n.1229G>C
NM_000208.2:c.1254G>C NP_000199.2:p.Glu418Asp
NM_000208.3:c.1254G>C NP_000199.2:p.Glu418Asp
NM_001079817.1:c.1254G>C NP_001073285.1:p.Glu418Asp
NM_001079817.2:c.1254G>C NP_001073285.1:p.Glu418Asp
XM_011527988.1:c.1332G>C XP_011526290.1:p.Glu444Asp
XM_011527989.1:c.1332G>C XP_011526291.1:p.Glu444Asp
XM_011527988.2:c.1254G>C XP_011526290.2:p.Glu418Asp
XM_011527989.3:c.1254G>C XP_011526291.2:p.Glu418Asp
NM_000208.4:c.1254G>C MANE Select NP_000199.2:p.Glu418Asp
NM_001079817.3:c.1254G>C NP_001073285.1:p.Glu418Asp