Canonical Allele Identifier: CA403671197

Gene: INSR

Linked Data

• gnomAD v4: 19-7125392-G-A
• MyVariant Identifiers: chr19:g.7125403G>A (hg19) ; chr19:g.7125392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125392G>A , CM000681.2:g.7125392G>A	GRCh38
NC_000019.9:g.7125403G>A , CM000681.1:g.7125403G>A	GRCh37
NC_000019.8:g.7076403G>A	NCBI36
NG_008852.2:g.173609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3149C>T MANE Select	ENSP00000303830.4:p.Ala1050Val
ENST00000302850.9:c.3149C>T	ENSP00000303830.4:p.Ala1050Val
ENST00000341500.9:c.3113C>T	ENSP00000342838.4:p.Ala1038Val
NM_000208.2:c.3149C>T	NP_000199.2:p.Ala1050Val
NM_000208.3:c.3149C>T	NP_000199.2:p.Ala1050Val
NM_001079817.1:c.3113C>T	NP_001073285.1:p.Ala1038Val
NM_001079817.2:c.3113C>T	NP_001073285.1:p.Ala1038Val
XM_011527988.1:c.3224C>T	XP_011526290.1:p.Ala1075Val
XM_011527989.1:c.3188C>T	XP_011526291.1:p.Ala1063Val
XM_011527988.2:c.3146C>T	XP_011526290.2:p.Ala1049Val
XM_011527989.3:c.3110C>T	XP_011526291.2:p.Ala1037Val
NM_000208.4:c.3149C>T MANE Select	NP_000199.2:p.Ala1050Val
NM_001079817.3:c.3113C>T	NP_001073285.1:p.Ala1038Val