Canonical Allele Identifier: CA982866147

Gene:

Linked Data

• gnomAD v3: 17-30237275-GGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAAT-G
• gnomAD v4: 17-30237275-GGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237285_30237381del , CM000679.2:g.30237285_30237381del	GRCh38
NC_000017.10:g.28564303_28564399del , CM000679.1:g.28564303_28564399del	GRCh37
NC_000017.9:g.25588429_25588525del	NCBI36
NG_011747.2:g.3565_3661del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+215_166-261del
XR_001752824.1:n.280+215_281-261del