Canonical Allele Identifier: CA200288

Gene: INSR

Linked Data

• ClinVar Variation Id: 193063
• ClinVar RCV Id: RCV000173085 ; RCV000261376 ; RCV000318884 ; RCV000375797 ; RCV001538633
• dbSNP Id: rs7508518
• ExAC: 19:7293898 G / C
• gnomAD v2: 19-7293898-G-C
• gnomAD v3: 19-7293887-G-C
• gnomAD v4: 19-7293887-G-C
• MyVariant Identifiers: chr19:g.7293898G>C (hg19) ; chr19:g.7293887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7293887G>C , CM000681.2:g.7293887G>C	GRCh38
NC_000019.9:g.7293898G>C , CM000681.1:g.7293898G>C	GRCh37
NC_000019.8:g.7244898G>C	NCBI36
NG_008852.2:g.5114C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.5C>G MANE Select	ENSP00000303830.4:p.Ala2Gly
ENST00000302850.9:c.5C>G	ENSP00000303830.4:p.Ala2Gly
ENST00000341500.9:c.5C>G	ENSP00000342838.4:p.Ala2Gly
NM_000208.2:c.5C>G	NP_000199.2:p.Ala2Gly
NM_000208.3:c.5C>G	NP_000199.2:p.Ala2Gly
NM_001079817.1:c.5C>G	NP_001073285.1:p.Ala2Gly
NM_001079817.2:c.5C>G	NP_001073285.1:p.Ala2Gly
XM_011527988.2:c.5C>G	XP_011526290.2:p.Ala2Gly
XM_011527989.3:c.5C>G	XP_011526291.2:p.Ala2Gly
NM_000208.4:c.5C>G MANE Select	NP_000199.2:p.Ala2Gly
NM_001079817.3:c.5C>G	NP_001073285.1:p.Ala2Gly