Canonical Allele Identifier: CA304866620

Gene: INSR

Linked Data

• dbSNP Id: rs959800826
• gnomAD v2: 19-7117339-C-T
• gnomAD v3: 19-7117328-C-T
• gnomAD v4: 19-7117328-C-T
• COSMIC: COSM3541170 ; COSM3541171
• MyVariant Identifiers: chr19:g.7117339C>T (hg19) ; chr19:g.7117328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117328C>T , CM000681.2:g.7117328C>T	GRCh38
NC_000019.9:g.7117339C>T , CM000681.1:g.7117339C>T	GRCh37
NC_000019.8:g.7068339C>T	NCBI36
NG_008852.2:g.181673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3877G>A MANE Select	ENSP00000303830.4:p.Asp1293Asn
ENST00000302850.9:c.3877G>A	ENSP00000303830.4:p.Asp1293Asn
ENST00000341500.9:c.3841G>A	ENSP00000342838.4:p.Asp1281Asn
NM_000208.2:c.3877G>A	NP_000199.2:p.Asp1293Asn
NM_000208.3:c.3877G>A	NP_000199.2:p.Asp1293Asn
NM_001079817.1:c.3841G>A	NP_001073285.1:p.Asp1281Asn
NM_001079817.2:c.3841G>A	NP_001073285.1:p.Asp1281Asn
XM_011527988.1:c.3952G>A	XP_011526290.1:p.Asp1318Asn
XM_011527989.1:c.3916G>A	XP_011526291.1:p.Asp1306Asn
XM_011527988.2:c.3874G>A	XP_011526290.2:p.Asp1292Asn
XM_011527989.3:c.3838G>A	XP_011526291.2:p.Asp1280Asn
NM_000208.4:c.3877G>A MANE Select	NP_000199.2:p.Asp1293Asn
NM_001079817.3:c.3841G>A	NP_001073285.1:p.Asp1281Asn