Canonical Allele Identifier: CA2595039442

Gene:

Linked Data

• gnomAD v3: 17-50211622-TCTC-T
• gnomAD v4: 17-50211622-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211629_50211631del , CM000679.2:g.50211629_50211631del	GRCh38
NC_000017.10:g.48288990_48288992del , CM000679.1:g.48288990_48288992del	GRCh37
NC_000017.9:g.45643989_45643991del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934838.1:n.43-2206_43-2204del