Canonical Allele Identifier: CA403668804

Gene: INSR

Linked Data

• gnomAD v4: 19-7117331-C-T
• MyVariant Identifiers: chr19:g.7117342C>T (hg19) ; chr19:g.7117331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117331C>T , CM000681.2:g.7117331C>T	GRCh38
NC_000019.9:g.7117342C>T , CM000681.1:g.7117342C>T	GRCh37
NC_000019.8:g.7068342C>T	NCBI36
NG_008852.2:g.181670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3874G>A MANE Select	ENSP00000303830.4:p.Asp1292Asn
ENST00000302850.9:c.3874G>A	ENSP00000303830.4:p.Asp1292Asn
ENST00000341500.9:c.3838G>A	ENSP00000342838.4:p.Asp1280Asn
NM_000208.2:c.3874G>A	NP_000199.2:p.Asp1292Asn
NM_000208.3:c.3874G>A	NP_000199.2:p.Asp1292Asn
NM_001079817.1:c.3838G>A	NP_001073285.1:p.Asp1280Asn
NM_001079817.2:c.3838G>A	NP_001073285.1:p.Asp1280Asn
XM_011527988.1:c.3949G>A	XP_011526290.1:p.Asp1317Asn
XM_011527989.1:c.3913G>A	XP_011526291.1:p.Asp1305Asn
XM_011527988.2:c.3871G>A	XP_011526290.2:p.Asp1291Asn
XM_011527989.3:c.3835G>A	XP_011526291.2:p.Asp1279Asn
NM_000208.4:c.3874G>A MANE Select	NP_000199.2:p.Asp1292Asn
NM_001079817.3:c.3838G>A	NP_001073285.1:p.Asp1280Asn