Canonical Allele Identifier: CA982866282

Gene:

Linked Data

• gnomAD v3: 17-30237285-TGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATG-T
• gnomAD v4: 17-30237285-TGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237290_30237377del , CM000679.2:g.30237290_30237377del	GRCh38
NC_000017.10:g.28564308_28564395del , CM000679.1:g.28564308_28564395del	GRCh37
NC_000017.9:g.25588434_25588521del	NCBI36
NG_011747.2:g.3564_3651del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+220_166-265del
XR_001752824.1:n.280+220_281-265del