Canonical Allele Identifier: CA982866028
Gene:

Linked Data

dbSNP Id: rs1907318034
gnomAD v3: 17-30237265-AAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG-A
gnomAD v4: 17-30237265-AAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237276_30237450del , CM000679.2:g.30237276_30237450del GRCh38
NC_000017.10:g.28564294_28564468del , CM000679.1:g.28564294_28564468del GRCh37
NC_000017.9:g.25588420_25588594del NCBI36
NG_011747.2:g.3497_3671del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+206_166-192del
XR_001752824.1:n.280+206_281-192del
Search 100 bp 5'
Search 100 bp 3'