Canonical Allele Identifier: CA289293355

Gene:

Linked Data

• ClinVar Variation Id: 12934
• ClinVar RCV Id: RCV000013797
• dbSNP Id: rs774676466
• gnomAD v2: 17-28564284-AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG-A
• gnomAD v3: 17-30237266-AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG-A
• gnomAD v4: 17-30237266-AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG-A
• MyVariant Identifiers: chr17:g.28564309_28564351del (hg19) ; chr17:g.28564285_28564327del (hg19) ; chr17:g.30237291_30237333del (hg38) ; chr17:g.30237267_30237309del (hg38)
• PubMed: PMID:7865169 ; PMID:8632190 ; PMID:8788073 ; PMID:16642437

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237299_30237341del , CM000679.2:g.30237299_30237341del	GRCh38
NC_000017.10:g.28564317_28564359del , CM000679.1:g.28564317_28564359del	GRCh37
NC_000017.9:g.25588443_25588485del	NCBI36
NG_011747.2:g.3628_3670del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+229_165+271del
XR_001752824.1:n.280+229_280+271del