Canonical Allele Identifier: CA9135343

Gene: INSR

Linked Data

• dbSNP Id: rs144762649
• ExAC: 19:7125372 G / A
• gnomAD v2: 19-7125372-G-A
• gnomAD v3: 19-7125361-G-A
• gnomAD v4: 19-7125361-G-A
• MyVariant Identifiers: chr19:g.7125372G>A (hg19) ; chr19:g.7125361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125361G>A , CM000681.2:g.7125361G>A	GRCh38
NC_000019.9:g.7125372G>A , CM000681.1:g.7125372G>A	GRCh37
NC_000019.8:g.7076372G>A	NCBI36
NG_008852.2:g.173640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3180C>T MANE Select	ENSP00000303830.4:p.Asn1060=
ENST00000302850.9:c.3180C>T	ENSP00000303830.4:p.Asn1060=
ENST00000341500.9:c.3144C>T	ENSP00000342838.4:p.Asn1048=
ENST00000593970.1:n.26C>T
NM_000208.2:c.3180C>T	NP_000199.2:p.Asn1060=
NM_000208.3:c.3180C>T	NP_000199.2:p.Asn1060=
NM_001079817.1:c.3144C>T	NP_001073285.1:p.Asn1048=
NM_001079817.2:c.3144C>T	NP_001073285.1:p.Asn1048=
XM_011527988.1:c.3255C>T	XP_011526290.1:p.Asn1085=
XM_011527989.1:c.3219C>T	XP_011526291.1:p.Asn1073=
XM_011527988.2:c.3177C>T	XP_011526290.2:p.Asn1059=
XM_011527989.3:c.3141C>T	XP_011526291.2:p.Asn1047=
NM_000208.4:c.3180C>T MANE Select	NP_000199.2:p.Asn1060=
NM_001079817.3:c.3144C>T	NP_001073285.1:p.Asn1048=