Canonical Allele Identifier: CA625447454

Gene:

Linked Data

• dbSNP Id: rs1167296300
• gnomAD v2: 17-28564311-CAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-C
• gnomAD v3: 17-30237293-CAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-C
• gnomAD v4: 17-30237293-CAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-C
• MyVariant Identifiers: chr17:g.28564312_28564346del (hg19) ; chr17:g.30237294_30237328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237294_30237328del , CM000679.2:g.30237294_30237328del	GRCh38
NC_000017.10:g.28564312_28564346del , CM000679.1:g.28564312_28564346del	GRCh37
NC_000017.9:g.25588438_25588472del	NCBI36
NG_011747.2:g.3609_3643del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+224_165+258del
XR_001752824.1:n.280+224_280+258del