Canonical Allele Identifier: CA982866757

Gene:

Linked Data

• gnomAD v3: 17-30237348-CGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCT-C
• gnomAD v4: 17-30237348-CGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237350_30237438del , CM000679.2:g.30237350_30237438del	GRCh38
NC_000017.10:g.28564368_28564456del , CM000679.1:g.28564368_28564456del	GRCh37
NC_000017.9:g.25588494_25588582del	NCBI36
NG_011747.2:g.3500_3588del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+280_166-204del
XR_001752824.1:n.280+280_281-204del