Canonical Allele Identifier: CA727901091
Gene:

Linked Data

dbSNP Id: rs1189249485
gnomAD v3: 17-30237313-CTGCAGGGGGGA-C
gnomAD v4: 17-30237313-CTGCAGGGGGGA-C
MyVariant Identifiers: chr17:g.28564332_28564342del (hg19) chr17:g.30237314_30237324del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237317_30237327del , CM000679.2:g.30237317_30237327del GRCh38
NC_000017.10:g.28564335_28564345del , CM000679.1:g.28564335_28564345del GRCh37
NC_000017.9:g.25588461_25588471del NCBI36
NG_011747.2:g.3613_3623del

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+247_165+257del
XR_001752824.1:n.280+247_280+257del
Search 100 bp 5'
Search 100 bp 3'