Canonical Allele Identifier: CA2592474142

Gene:

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237258_30237342dup , CM000679.2:g.30237258_30237342dup	GRCh38
NC_000017.10:g.28564276_28564360dup , CM000679.1:g.28564276_28564360dup	GRCh37
NC_000017.9:g.25588402_25588486dup	NCBI36
NG_011747.2:g.3606_3690dup

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+188_165+272dup
XR_001752824.1:n.280+188_280+272dup