Canonical Allele Identifier: CA982866675

Gene:

Linked Data

• gnomAD v3: 17-30237333-GTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-G
• gnomAD v4: 17-30237333-GTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237348_30237436del , CM000679.2:g.30237348_30237436del	GRCh38
NC_000017.10:g.28564366_28564454del , CM000679.1:g.28564366_28564454del	GRCh37
NC_000017.9:g.25588492_25588580del	NCBI36
NG_011747.2:g.3515_3603del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+278_166-206del
XR_001752824.1:n.280+278_281-206del