Canonical Allele Identifier: CA982865828

Gene:

Linked Data

• gnomAD v3: 17-30237246-AGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGG-A
• gnomAD v4: 17-30237246-AGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237250_30237402del , CM000679.2:g.30237250_30237402del	GRCh38
NC_000017.10:g.28564268_28564420del , CM000679.1:g.28564268_28564420del	GRCh37
NC_000017.9:g.25588394_25588546del	NCBI36
NG_011747.2:g.3538_3690del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+180_166-240del
XR_001752824.1:n.280+180_281-240del