Canonical Allele Identifier: CA982865886
Gene:

Linked Data

gnomAD v3: 17-30237252-AGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAG-A
gnomAD v4: 17-30237252-AGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237265_30237439del , CM000679.2:g.30237265_30237439del GRCh38
NC_000017.10:g.28564283_28564457del , CM000679.1:g.28564283_28564457del GRCh37
NC_000017.9:g.25588409_25588583del NCBI36
NG_011747.2:g.3510_3684del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+195_166-203del
XR_001752824.1:n.280+195_281-203del
Search 100 bp 5'
Search 100 bp 3'