Canonical Allele Identifier: CA9135465

Gene: INSR

Linked Data

• dbSNP Id: rs750954241
• ExAC: 19:7132285 C / T
• gnomAD v2: 19-7132285-C-T
• gnomAD v3: 19-7132274-C-T
• gnomAD v4: 19-7132274-C-T
• COSMIC: COSM1397485 ; COSM1397486
• MyVariant Identifiers: chr19:g.7132285C>T (hg19) ; chr19:g.7132274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132274C>T , CM000681.2:g.7132274C>T	GRCh38
NC_000019.9:g.7132285C>T , CM000681.1:g.7132285C>T	GRCh37
NC_000019.8:g.7083285C>T	NCBI36
NG_008852.2:g.166727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2726G>A MANE Select	ENSP00000303830.4:p.Arg909Gln
ENST00000302850.9:c.2726G>A	ENSP00000303830.4:p.Arg909Gln
ENST00000341500.9:c.2690G>A	ENSP00000342838.4:p.Arg897Gln
NM_000208.2:c.2726G>A	NP_000199.2:p.Arg909Gln
NM_000208.3:c.2726G>A	NP_000199.2:p.Arg909Gln
NM_001079817.1:c.2690G>A	NP_001073285.1:p.Arg897Gln
NM_001079817.2:c.2690G>A	NP_001073285.1:p.Arg897Gln
XM_011527988.1:c.2804G>A	XP_011526290.1:p.Arg935Gln
XM_011527989.1:c.2768G>A	XP_011526291.1:p.Arg923Gln
XM_011527988.2:c.2726G>A	XP_011526290.2:p.Arg909Gln
XM_011527989.3:c.2690G>A	XP_011526291.2:p.Arg897Gln
NM_000208.4:c.2726G>A MANE Select	NP_000199.2:p.Arg909Gln
NM_001079817.3:c.2690G>A	NP_001073285.1:p.Arg897Gln