Canonical Allele Identifier: CA9135428

Gene: INSR

Linked Data

• ClinVar Variation Id: 894288
• ClinVar RCV Id: RCV001134584 ; RCV001134585 ; RCV001134586
• dbSNP Id: rs139944962
• ExAC: 19:7128960 C / T
• gnomAD v2: 19-7128960-C-T
• gnomAD v3: 19-7128949-C-T
• gnomAD v4: 19-7128949-C-T
• MyVariant Identifiers: chr19:g.7128960C>T (hg19) ; chr19:g.7128949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7128949C>T , CM000681.2:g.7128949C>T	GRCh38
NC_000019.9:g.7128960C>T , CM000681.1:g.7128960C>T	GRCh37
NC_000019.8:g.7079960C>T	NCBI36
NG_008852.2:g.170052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2848G>A MANE Select	ENSP00000303830.4:p.Val950Ile
ENST00000302850.9:c.2848G>A	ENSP00000303830.4:p.Val950Ile
ENST00000341500.9:c.2812G>A	ENSP00000342838.4:p.Val938Ile
NM_000208.2:c.2848G>A	NP_000199.2:p.Val950Ile
NM_000208.3:c.2848G>A	NP_000199.2:p.Val950Ile
NM_001079817.1:c.2812G>A	NP_001073285.1:p.Val938Ile
NM_001079817.2:c.2812G>A	NP_001073285.1:p.Val938Ile
XM_011527988.1:c.2923G>A	XP_011526290.1:p.Val975Ile
XM_011527989.1:c.2887G>A	XP_011526291.1:p.Val963Ile
XM_011527988.2:c.2845G>A	XP_011526290.2:p.Val949Ile
XM_011527989.3:c.2809G>A	XP_011526291.2:p.Val937Ile
NM_000208.4:c.2848G>A MANE Select	NP_000199.2:p.Val950Ile
NM_001079817.3:c.2812G>A	NP_001073285.1:p.Val938Ile