Canonical Allele Identifier: CA982866422

Gene:

Linked Data

• gnomAD v3: 17-30237295-GGGGAGAT-G
• gnomAD v4: 17-30237295-GGGGAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237297_30237303del , CM000679.2:g.30237297_30237303del	GRCh38
NC_000017.10:g.28564315_28564321del , CM000679.1:g.28564315_28564321del	GRCh37
NC_000017.9:g.25588441_25588447del	NCBI36
NG_011747.2:g.3635_3641del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+227_165+233del
XR_001752824.1:n.280+227_280+233del