Canonical Allele Identifier: CA9135155

Gene: INSR

Linked Data

• ClinVar Variation Id: 435517
• ClinVar RCV Id: RCV000503966 ; RCV000765477 ; RCV001302076 ; RCV003884579
• dbSNP Id: rs369102740
• ExAC: 19:7119479 C / T
• gnomAD v2: 19-7119479-C-T
• gnomAD v3: 19-7119468-C-T
• gnomAD v4: 19-7119468-C-T
• MyVariant Identifiers: chr19:g.7119479C>T (hg19) ; chr19:g.7119468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119468C>T , CM000681.2:g.7119468C>T	GRCh38
NC_000019.9:g.7119479C>T , CM000681.1:g.7119479C>T	GRCh37
NC_000019.8:g.7070479C>T	NCBI36
NG_008852.2:g.179533G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3775G>A MANE Select	ENSP00000303830.4:p.Asp1259Asn
ENST00000302850.9:c.3775G>A	ENSP00000303830.4:p.Asp1259Asn
ENST00000341500.9:c.3739G>A	ENSP00000342838.4:p.Asp1247Asn
NM_000208.2:c.3775G>A	NP_000199.2:p.Asp1259Asn
NM_000208.3:c.3775G>A	NP_000199.2:p.Asp1259Asn
NM_001079817.1:c.3739G>A	NP_001073285.1:p.Asp1247Asn
NM_001079817.2:c.3739G>A	NP_001073285.1:p.Asp1247Asn
XM_011527988.1:c.3850G>A	XP_011526290.1:p.Asp1284Asn
XM_011527989.1:c.3814G>A	XP_011526291.1:p.Asp1272Asn
XM_011527988.2:c.3772G>A	XP_011526290.2:p.Asp1258Asn
XM_011527989.3:c.3736G>A	XP_011526291.2:p.Asp1246Asn
NM_000208.4:c.3775G>A MANE Select	NP_000199.2:p.Asp1259Asn
NM_001079817.3:c.3739G>A	NP_001073285.1:p.Asp1247Asn