Canonical Allele Identifier: CA982865615

Gene:

Linked Data

• gnomAD v3: 17-30237196-TGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCC-T
• gnomAD v4: 17-30237196-TGCGAGGGGTGCAGGGGGGATAATGGGGGTTGCAGGGGAGATCCTGGGAGAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237207_30237358del , CM000679.2:g.30237207_30237358del	GRCh38
NC_000017.10:g.28564225_28564376del , CM000679.1:g.28564225_28564376del	GRCh37
NC_000017.9:g.25588351_25588502del	NCBI36
NG_011747.2:g.3589_3740del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+137_166-284del
XR_001752824.1:n.280+137_281-284del