Canonical Allele Identifier: CA982865163
Gene:

Linked Data

gnomAD v3: 17-30237127-AATGCTGGAGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGG-A
gnomAD v4: 17-30237127-AATGCTGGAGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237135_30237330del , CM000679.2:g.30237135_30237330del GRCh38
NC_000017.10:g.28564153_28564348del , CM000679.1:g.28564153_28564348del GRCh37
NC_000017.9:g.25588279_25588474del NCBI36
NG_011747.2:g.3614_3809del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+65_165+260del
XR_001752824.1:n.280+65_280+260del
Search 100 bp 5'
Search 100 bp 3'