Canonical Allele Identifier: CA2592474150
Gene:

Linked Data

gnomAD v3: 17-30237274-AGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAG-A
gnomAD v4: 17-30237274-AGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237283_30237369del , CM000679.2:g.30237283_30237369del GRCh38
NC_000017.10:g.28564301_28564387del , CM000679.1:g.28564301_28564387del GRCh37
NC_000017.9:g.25588427_25588513del NCBI36
NG_011747.2:g.3576_3662del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+213_166-273del
XR_001752824.1:n.280+213_281-273del
Search 100 bp 5'
Search 100 bp 3'