Canonical Allele Identifier: CA982866310

Gene:

Linked Data

• dbSNP Id: rs1907321175
• gnomAD v3: 17-30237292-GCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGT-G
• gnomAD v4: 17-30237292-GCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237293_30237334del , CM000679.2:g.30237293_30237334del	GRCh38
NC_000017.10:g.28564311_28564352del , CM000679.1:g.28564311_28564352del	GRCh37
NC_000017.9:g.25588437_25588478del	NCBI36
NG_011747.2:g.3603_3644del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+223_165+264del
XR_001752824.1:n.280+223_280+264del