Canonical Allele Identifier: CA982866366

Gene:

Linked Data

• dbSNP Id: rs1907321633
• gnomAD v3: 17-30237294-AGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATG-A
• gnomAD v4: 17-30237294-AGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237295_30237346del , CM000679.2:g.30237295_30237346del	GRCh38
NC_000017.10:g.28564313_28564364del , CM000679.1:g.28564313_28564364del	GRCh37
NC_000017.9:g.25588439_25588490del	NCBI36
NG_011747.2:g.3591_3642del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+225_165+276del
XR_001752824.1:n.280+225_280+276del