Canonical Allele Identifier: CA982865438

Gene:

Linked Data

• dbSNP Id: rs1907310982
• gnomAD v3: 17-30237164-TGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCA-T
• gnomAD v4: 17-30237164-TGGGGGGATGCTGGGGGGTGCAGGGGGGATACTGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237181_30237333del , CM000679.2:g.30237181_30237333del	GRCh38
NC_000017.10:g.28564199_28564351del , CM000679.1:g.28564199_28564351del	GRCh37
NC_000017.9:g.25588325_25588477del	NCBI36
NG_011747.2:g.3620_3772del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+111_165+263del
XR_001752824.1:n.280+111_280+263del