Canonical Allele Identifier: CA403671105

Gene: INSR

Linked Data

• dbSNP Id: rs1234618927
• gnomAD v2: 19-7125358-A-C
• gnomAD v4: 19-7125347-A-C
• MyVariant Identifiers: chr19:g.7125358A>C (hg19) ; chr19:g.7125347A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125347A>C , CM000681.2:g.7125347A>C	GRCh38
NC_000019.9:g.7125358A>C , CM000681.1:g.7125358A>C	GRCh37
NC_000019.8:g.7076358A>C	NCBI36
NG_008852.2:g.173654T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3194T>G MANE Select	ENSP00000303830.4:p.Leu1065Arg
ENST00000302850.9:c.3194T>G	ENSP00000303830.4:p.Leu1065Arg
ENST00000341500.9:c.3158T>G	ENSP00000342838.4:p.Leu1053Arg
ENST00000593970.1:n.40T>G
NM_000208.2:c.3194T>G	NP_000199.2:p.Leu1065Arg
NM_000208.3:c.3194T>G	NP_000199.2:p.Leu1065Arg
NM_001079817.1:c.3158T>G	NP_001073285.1:p.Leu1053Arg
NM_001079817.2:c.3158T>G	NP_001073285.1:p.Leu1053Arg
XM_011527988.1:c.3269T>G	XP_011526290.1:p.Leu1090Arg
XM_011527989.1:c.3233T>G	XP_011526291.1:p.Leu1078Arg
XM_011527988.2:c.3191T>G	XP_011526290.2:p.Leu1064Arg
XM_011527989.3:c.3155T>G	XP_011526291.2:p.Leu1052Arg
NM_000208.4:c.3194T>G MANE Select	NP_000199.2:p.Leu1065Arg
NM_001079817.3:c.3158T>G	NP_001073285.1:p.Leu1053Arg