Canonical Allele Identifier: CA977194928

Gene:

Linked Data

• dbSNP Id: rs2037534185
• gnomAD v3: 16-50109051-C-CCACAG
• gnomAD v4: 16-50109051-C-CCACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109051_50109052insCACAG , CM000678.2:g.50109051_50109052insCACAG	GRCh38
NC_000016.9:g.50142962_50142963insCACAG , CM000678.1:g.50142962_50142963insCACAG	GRCh37
NC_000016.8:g.48700463_48700464insCACAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2400_115-2399insCTGTG	XP_011521792.1:n.115-2400_115-2399insCTGTG