Canonical Allele Identifier: CA982865442

Gene:

Linked Data

• gnomAD v3: 17-30237164-TGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCA-T
• gnomAD v4: 17-30237164-TGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237175_30237347del , CM000679.2:g.30237175_30237347del	GRCh38
NC_000017.10:g.28564193_28564365del , CM000679.1:g.28564193_28564365del	GRCh37
NC_000017.9:g.25588319_25588491del	NCBI36
NG_011747.2:g.3600_3772del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+105_165+277del
XR_001752824.1:n.280+105_280+277del