Canonical Allele Identifier: CA9135123

Gene: INSR

Linked Data

• dbSNP Id: rs766008634
• ExAC: 19:7117322 A / G
• gnomAD v2: 19-7117322-A-G
• gnomAD v4: 19-7117311-A-G
• MyVariant Identifiers: chr19:g.7117322A>G (hg19) ; chr19:g.7117311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117311A>G , CM000681.2:g.7117311A>G	GRCh38
NC_000019.9:g.7117322A>G , CM000681.1:g.7117322A>G	GRCh37
NC_000019.8:g.7068322A>G	NCBI36
NG_008852.2:g.181690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3894T>C MANE Select	ENSP00000303830.4:p.Phe1298=
ENST00000302850.9:c.3894T>C	ENSP00000303830.4:p.Phe1298=
ENST00000341500.9:c.3858T>C	ENSP00000342838.4:p.Phe1286=
NM_000208.2:c.3894T>C	NP_000199.2:p.Phe1298=
NM_000208.3:c.3894T>C	NP_000199.2:p.Phe1298=
NM_001079817.1:c.3858T>C	NP_001073285.1:p.Phe1286=
NM_001079817.2:c.3858T>C	NP_001073285.1:p.Phe1286=
XM_011527988.1:c.3969T>C	XP_011526290.1:p.Phe1323=
XM_011527989.1:c.3933T>C	XP_011526291.1:p.Phe1311=
XM_011527988.2:c.3891T>C	XP_011526290.2:p.Phe1297=
XM_011527989.3:c.3855T>C	XP_011526291.2:p.Phe1285=
NM_000208.4:c.3894T>C MANE Select	NP_000199.2:p.Phe1298=
NM_001079817.3:c.3858T>C	NP_001073285.1:p.Phe1286=