Canonical Allele Identifier: CA982866503

Gene:

Linked Data

• dbSNP Id: rs1907323977
• gnomAD v3: 17-30237309-GGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGAT-G
• gnomAD v4: 17-30237309-GGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237311_30237346del , CM000679.2:g.30237311_30237346del	GRCh38
NC_000017.10:g.28564329_28564364del , CM000679.1:g.28564329_28564364del	GRCh37
NC_000017.9:g.25588455_25588490del	NCBI36
NG_011747.2:g.3592_3627del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+241_165+276del
XR_001752824.1:n.280+241_280+276del