Canonical Allele Identifier: CA2687741466
Gene:

Linked Data

gnomAD v4: 8-81478415-TGGACAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478416_81478421del , CM000670.2:g.81478416_81478421del GRCh38
NC_000008.10:g.82390651_82390656del , CM000670.1:g.82390651_82390656del GRCh37
NC_000008.9:g.82553206_82553211del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745980.1:n.514+16442_514+16447del
Search 100 bp 5'
Search 100 bp 3'