Canonical Allele Identifier: CA403668790

Gene: INSR

Linked Data

• dbSNP Id: rs1972359680
• gnomAD v4: 19-7117326-G-C
• MyVariant Identifiers: chr19:g.7117337G>C (hg19) ; chr19:g.7117326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117326G>C , CM000681.2:g.7117326G>C	GRCh38
NC_000019.9:g.7117337G>C , CM000681.1:g.7117337G>C	GRCh37
NC_000019.8:g.7068337G>C	NCBI36
NG_008852.2:g.181675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3879C>G MANE Select	ENSP00000303830.4:p.Asp1293Glu
ENST00000302850.9:c.3879C>G	ENSP00000303830.4:p.Asp1293Glu
ENST00000341500.9:c.3843C>G	ENSP00000342838.4:p.Asp1281Glu
NM_000208.2:c.3879C>G	NP_000199.2:p.Asp1293Glu
NM_000208.3:c.3879C>G	NP_000199.2:p.Asp1293Glu
NM_001079817.1:c.3843C>G	NP_001073285.1:p.Asp1281Glu
NM_001079817.2:c.3843C>G	NP_001073285.1:p.Asp1281Glu
XM_011527988.1:c.3954C>G	XP_011526290.1:p.Asp1318Glu
XM_011527989.1:c.3918C>G	XP_011526291.1:p.Asp1306Glu
XM_011527988.2:c.3876C>G	XP_011526290.2:p.Asp1292Glu
XM_011527989.3:c.3840C>G	XP_011526291.2:p.Asp1280Glu
NM_000208.4:c.3879C>G MANE Select	NP_000199.2:p.Asp1293Glu
NM_001079817.3:c.3843C>G	NP_001073285.1:p.Asp1281Glu