Canonical Allele Identifier: CA9135877

Gene: INSR

Linked Data

• dbSNP Id: rs751748857
• ExAC: 19:7172311 A / G
• gnomAD v2: 19-7172311-A-G
• gnomAD v4: 19-7172300-A-G
• MyVariant Identifiers: chr19:g.7172311A>G (hg19) ; chr19:g.7172300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172300A>G , CM000681.2:g.7172300A>G	GRCh38
NC_000019.9:g.7172311A>G , CM000681.1:g.7172311A>G	GRCh37
NC_000019.8:g.7123311A>G	NCBI36
NG_008852.2:g.126701T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1258T>C MANE Select	ENSP00000303830.4:p.Leu420=
ENST00000302850.9:c.1258T>C	ENSP00000303830.4:p.Leu420=
ENST00000341500.9:c.1258T>C	ENSP00000342838.4:p.Leu420=
ENST00000598216.1:n.1233T>C
NM_000208.2:c.1258T>C	NP_000199.2:p.Leu420=
NM_000208.3:c.1258T>C	NP_000199.2:p.Leu420=
NM_001079817.1:c.1258T>C	NP_001073285.1:p.Leu420=
NM_001079817.2:c.1258T>C	NP_001073285.1:p.Leu420=
XM_011527988.1:c.1336T>C	XP_011526290.1:p.Leu446=
XM_011527989.1:c.1336T>C	XP_011526291.1:p.Leu446=
XM_011527988.2:c.1258T>C	XP_011526290.2:p.Leu420=
XM_011527989.3:c.1258T>C	XP_011526291.2:p.Leu420=
NM_000208.4:c.1258T>C MANE Select	NP_000199.2:p.Leu420=
NM_001079817.3:c.1258T>C	NP_001073285.1:p.Leu420=