Canonical Allele Identifier: CA9136022

Gene: INSR

Linked Data

• ClinVar Variation Id: 2277295
• ClinVar RCV Id: RCV002813616 ; RCV003491279
• dbSNP Id: rs770690301
• ExAC: 19:7184562 C / T
• gnomAD v2: 19-7184562-C-T
• gnomAD v3: 19-7184551-C-T
• gnomAD v4: 19-7184551-C-T
• MyVariant Identifiers: chr19:g.7184562C>T (hg19) ; chr19:g.7184551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184551C>T , CM000681.2:g.7184551C>T	GRCh38
NC_000019.9:g.7184562C>T , CM000681.1:g.7184562C>T	GRCh37
NC_000019.8:g.7135562C>T	NCBI36
NG_008852.2:g.114450G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.739G>A MANE Select	ENSP00000303830.4:p.Asp247Asn
ENST00000302850.9:c.739G>A	ENSP00000303830.4:p.Asp247Asn
ENST00000341500.9:c.739G>A	ENSP00000342838.4:p.Asp247Asn
ENST00000598216.1:n.714G>A
NM_000208.2:c.739G>A	NP_000199.2:p.Asp247Asn
NM_000208.3:c.739G>A	NP_000199.2:p.Asp247Asn
NM_001079817.1:c.739G>A	NP_001073285.1:p.Asp247Asn
NM_001079817.2:c.739G>A	NP_001073285.1:p.Asp247Asn
XM_011527988.1:c.817G>A	XP_011526290.1:p.Asp273Asn
XM_011527989.1:c.817G>A	XP_011526291.1:p.Asp273Asn
XM_011527988.2:c.739G>A	XP_011526290.2:p.Asp247Asn
XM_011527989.3:c.739G>A	XP_011526291.2:p.Asp247Asn
NM_000208.4:c.739G>A MANE Select	NP_000199.2:p.Asp247Asn
NM_001079817.3:c.739G>A	NP_001073285.1:p.Asp247Asn