Canonical Allele Identifier: CA982865525

Gene:

Linked Data

• gnomAD v3: 17-30237176-GGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-G
• gnomAD v4: 17-30237176-GGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237194_30237345del , CM000679.2:g.30237194_30237345del	GRCh38
NC_000017.10:g.28564212_28564363del , CM000679.1:g.28564212_28564363del	GRCh37
NC_000017.9:g.25588338_25588489del	NCBI36
NG_011747.2:g.3609_3760del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+124_165+275del
XR_001752824.1:n.280+124_280+275del