Canonical Allele Identifier: CA9135472

Gene: INSR

Linked Data

• ClinVar Variation Id: 893925
• ClinVar RCV Id: RCV001133226 ; RCV001133225 ; RCV001133227 ; RCV002556859
• dbSNP Id: rs144029037
• ExAC: 19:7132313 C / T
• gnomAD v2: 19-7132313-C-T
• gnomAD v3: 19-7132302-C-T
• gnomAD v4: 19-7132302-C-T
• MyVariant Identifiers: chr19:g.7132313C>T (hg19) ; chr19:g.7132302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132302C>T , CM000681.2:g.7132302C>T	GRCh38
NC_000019.9:g.7132313C>T , CM000681.1:g.7132313C>T	GRCh37
NC_000019.8:g.7083313C>T	NCBI36
NG_008852.2:g.166699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2698G>A MANE Select	ENSP00000303830.4:p.Val900Ile
ENST00000302850.9:c.2698G>A	ENSP00000303830.4:p.Val900Ile
ENST00000341500.9:c.2662G>A	ENSP00000342838.4:p.Val888Ile
NM_000208.2:c.2698G>A	NP_000199.2:p.Val900Ile
NM_000208.3:c.2698G>A	NP_000199.2:p.Val900Ile
NM_001079817.1:c.2662G>A	NP_001073285.1:p.Val888Ile
NM_001079817.2:c.2662G>A	NP_001073285.1:p.Val888Ile
XM_011527988.1:c.2776G>A	XP_011526290.1:p.Val926Ile
XM_011527989.1:c.2740G>A	XP_011526291.1:p.Val914Ile
XM_011527988.2:c.2698G>A	XP_011526290.2:p.Val900Ile
XM_011527989.3:c.2662G>A	XP_011526291.2:p.Val888Ile
NM_000208.4:c.2698G>A MANE Select	NP_000199.2:p.Val900Ile
NM_001079817.3:c.2662G>A	NP_001073285.1:p.Val888Ile