Canonical Allele Identifier: CA982865990

Gene:

Linked Data

• gnomAD v3: 17-30237262-TGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCA-T
• gnomAD v4: 17-30237262-TGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237266_30237385del , CM000679.2:g.30237266_30237385del	GRCh38
NC_000017.10:g.28564284_28564403del , CM000679.1:g.28564284_28564403del	GRCh37
NC_000017.9:g.25588410_25588529del	NCBI36
NG_011747.2:g.3555_3674del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+196_166-257del
XR_001752824.1:n.280+196_281-257del