Canonical Allele Identifier: CA982865353

Gene:

Linked Data

• dbSNP Id: rs1907309954
• gnomAD v3: 17-30237154-CGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-C
• gnomAD v4: 17-30237154-CGGGGGTGCATGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237164_30237337del , CM000679.2:g.30237164_30237337del	GRCh38
NC_000017.10:g.28564182_28564355del , CM000679.1:g.28564182_28564355del	GRCh37
NC_000017.9:g.25588308_25588481del	NCBI36
NG_011747.2:g.3609_3782del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+94_165+267del
XR_001752824.1:n.280+94_280+267del