Canonical Allele Identifier: CA555410620

Gene:

Linked Data

• dbSNP Id: rs1236107652
• gnomAD v2: 4-145522731-A-AG
• gnomAD v3: 4-144601579-A-AG
• gnomAD v4: 4-144601579-A-AG
• MyVariant Identifiers: chr4:g.145522731_145522732insG (hg19) ; chr4:g.144601579_144601580insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601579_144601580insG , CM000666.2:g.144601579_144601580insG	GRCh38
NC_000004.11:g.145522731_145522732insG , CM000666.1:g.145522731_145522732insG	GRCh37
NC_000004.10:g.145742181_145742182insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185602_328-185601insC	ENSP00000497507.1:n.328-185602_328-185601insC