Canonical Allele Identifier: CA982865818
Gene:

Linked Data

gnomAD v3: 17-30237244-AGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTG-A
gnomAD v4: 17-30237244-AGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237246_30237287del , CM000679.2:g.30237246_30237287del GRCh38
NC_000017.10:g.28564264_28564305del , CM000679.1:g.28564264_28564305del GRCh37
NC_000017.9:g.25588390_25588431del NCBI36
NG_011747.2:g.3651_3692del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+176_165+217del
XR_001752824.1:n.280+176_280+217del
Search 100 bp 5'
Search 100 bp 3'