Canonical Allele Identifier: CA9135420

Gene: INSR

Linked Data

• dbSNP Id: rs765227638
• ExAC: 19:7128930 C / T
• gnomAD v2: 19-7128930-C-T
• gnomAD v3: 19-7128919-C-T
• gnomAD v4: 19-7128919-C-T
• COSMIC: COSM4653242 ; COSM4653243
• MyVariant Identifiers: chr19:g.7128930C>T (hg19) ; chr19:g.7128919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7128919C>T , CM000681.2:g.7128919C>T	GRCh38
NC_000019.9:g.7128930C>T , CM000681.1:g.7128930C>T	GRCh37
NC_000019.8:g.7079930C>T	NCBI36
NG_008852.2:g.170082G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2878G>A MANE Select	ENSP00000303830.4:p.Gly960Ser
ENST00000302850.9:c.2878G>A	ENSP00000303830.4:p.Gly960Ser
ENST00000341500.9:c.2842G>A	ENSP00000342838.4:p.Gly948Ser
NM_000208.2:c.2878G>A	NP_000199.2:p.Gly960Ser
NM_000208.3:c.2878G>A	NP_000199.2:p.Gly960Ser
NM_001079817.1:c.2842G>A	NP_001073285.1:p.Gly948Ser
NM_001079817.2:c.2842G>A	NP_001073285.1:p.Gly948Ser
XM_011527988.1:c.2953G>A	XP_011526290.1:p.Gly985Ser
XM_011527989.1:c.2917G>A	XP_011526291.1:p.Gly973Ser
XM_011527988.2:c.2875G>A	XP_011526290.2:p.Gly959Ser
XM_011527989.3:c.2839G>A	XP_011526291.2:p.Gly947Ser
NM_000208.4:c.2878G>A MANE Select	NP_000199.2:p.Gly960Ser
NM_001079817.3:c.2842G>A	NP_001073285.1:p.Gly948Ser