Canonical Allele Identifier: CA9135075

Gene: INSR

Linked Data

• dbSNP Id: rs41507444
• ExAC: 19:7117051 G / T
• gnomAD v2: 19-7117051-G-T
• gnomAD v3: 19-7117040-G-T
• gnomAD v4: 19-7117040-G-T
• MyVariant Identifiers: chr19:g.7117051G>T (hg19) ; chr19:g.7117040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117040G>T , CM000681.2:g.7117040G>T	GRCh38
NC_000019.9:g.7117051G>T , CM000681.1:g.7117051G>T	GRCh37
NC_000019.8:g.7068051G>T	NCBI36
NG_008852.2:g.181961C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*16C>A MANE Select	ENSP00000303830.4:n.*16C>A
ENST00000302850.9:c.*16C>A	ENSP00000303830.4:n.*16C>A
ENST00000341500.9:c.*16C>A	ENSP00000342838.4:n.*16C>A
NM_000208.2:c.*16C>A	NP_000199.2:n.*16C>A
NM_000208.3:c.*16C>A	NP_000199.2:n.*16C>A
NM_001079817.1:c.*16C>A	NP_001073285.1:n.*16C>A
NM_001079817.2:c.*16C>A	NP_001073285.1:n.*16C>A
XM_011527988.1:c.*16C>A	XP_011526290.1:n.*16C>A
XM_011527989.1:c.*16C>A	XP_011526291.1:n.*16C>A
XM_011527988.2:c.*16C>A	XP_011526290.2:n.*16C>A
XM_011527989.3:c.*16C>A	XP_011526291.2:n.*16C>A
NM_000208.4:c.*16C>A MANE Select	NP_000199.2:n.*16C>A
NM_001079817.3:c.*16C>A	NP_001073285.1:n.*16C>A