Canonical Allele Identifier: CA403671406

Gene: INSR

Linked Data

• gnomAD v4: 19-7125490-C-G
• MyVariant Identifiers: chr19:g.7125501C>G (hg19) ; chr19:g.7125490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125490C>G , CM000681.2:g.7125490C>G	GRCh38
NC_000019.9:g.7125501C>G , CM000681.1:g.7125501C>G	GRCh37
NC_000019.8:g.7076501C>G	NCBI36
NG_008852.2:g.173511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3051G>C MANE Select	ENSP00000303830.4:p.Glu1017Asp
ENST00000302850.9:c.3051G>C	ENSP00000303830.4:p.Glu1017Asp
ENST00000341500.9:c.3015G>C	ENSP00000342838.4:p.Glu1005Asp
NM_000208.2:c.3051G>C	NP_000199.2:p.Glu1017Asp
NM_000208.3:c.3051G>C	NP_000199.2:p.Glu1017Asp
NM_001079817.1:c.3015G>C	NP_001073285.1:p.Glu1005Asp
NM_001079817.2:c.3015G>C	NP_001073285.1:p.Glu1005Asp
XM_011527988.1:c.3126G>C	XP_011526290.1:p.Glu1042Asp
XM_011527989.1:c.3090G>C	XP_011526291.1:p.Glu1030Asp
XM_011527988.2:c.3048G>C	XP_011526290.2:p.Glu1016Asp
XM_011527989.3:c.3012G>C	XP_011526291.2:p.Glu1004Asp
NM_000208.4:c.3051G>C MANE Select	NP_000199.2:p.Glu1017Asp
NM_001079817.3:c.3015G>C	NP_001073285.1:p.Glu1005Asp