Canonical Allele Identifier: CA977151044
Gene:

Linked Data

dbSNP Id: rs1961467943
gnomAD v3: 16-49108676-CA-C
gnomAD v4: 16-49108676-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108677del , CM000678.2:g.49108677del GRCh38
NC_000016.9:g.49142588del , CM000678.1:g.49142588del GRCh37
NC_000016.8:g.47700089del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1267del
XR_001752138.2:n.591+5299del
XR_933517.2:n.810+1267del
Search 100 bp 5'
Search 100 bp 3'