Canonical Allele Identifier: CA281184633

Gene:

Linked Data

• dbSNP Id: rs530008314
• gnomAD v2: 16-50142947-CT-C
• gnomAD v3: 16-50109036-CT-C
• gnomAD v4: 16-50109036-CT-C
• MyVariant Identifiers: chr16:g.50142948del (hg19) ; chr16:g.50109037del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109037del , CM000678.2:g.50109037del	GRCh38
NC_000016.9:g.50142948del , CM000678.1:g.50142948del	GRCh37
NC_000016.8:g.48700449del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2385del	XP_011521792.1:n.115-2385del