Canonical Allele Identifier: CA2687741439

Gene:

Linked Data

• gnomAD v4: 8-81478379-CGGGTATAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478380_81478389del , CM000670.2:g.81478380_81478389del	GRCh38
NC_000008.10:g.82390615_82390624del , CM000670.1:g.82390615_82390624del	GRCh37
NC_000008.9:g.82553170_82553179del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16406_514+16415del