Canonical Allele Identifier: CA919823936
Gene:

Linked Data

dbSNP Id: rs869248076
gnomAD v3: 17-30237317-AG-A
gnomAD v4: 17-30237317-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237323del , CM000679.2:g.30237323del GRCh38
NC_000017.10:g.28564341del , CM000679.1:g.28564341del GRCh37
NC_000017.9:g.25588467del NCBI36
NG_011747.2:g.3619del

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+253del
XR_001752824.1:n.280+253del
Search 100 bp 5'
Search 100 bp 3'