Canonical Allele Identifier: CA977194932

Gene:

Linked Data

• dbSNP Id: rs2037534272
• gnomAD v3: 16-50109052-T-TAA
• gnomAD v4: 16-50109052-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109052_50109053insAA , CM000678.2:g.50109052_50109053insAA	GRCh38
NC_000016.9:g.50142963_50142964insAA , CM000678.1:g.50142963_50142964insAA	GRCh37
NC_000016.8:g.48700464_48700465insAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2401_115-2400insTT	XP_011521792.1:n.115-2401_115-2400insTT