Canonical Allele Identifier: CA982866086

Gene:

Linked Data

• gnomAD v3: 17-30237270-CTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-C
• gnomAD v4: 17-30237270-CTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237289_30237440del , CM000679.2:g.30237289_30237440del	GRCh38
NC_000017.10:g.28564307_28564458del , CM000679.1:g.28564307_28564458del	GRCh37
NC_000017.9:g.25588433_25588584del	NCBI36
NG_011747.2:g.3515_3666del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+219_166-202del
XR_001752824.1:n.280+219_281-202del