Canonical Allele Identifier: CA2532484034

Gene:

Linked Data

• dbSNP Id: rs2143017352
• gnomAD v3: 17-30237134-G-GA
• gnomAD v4: 17-30237134-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237135dup , CM000679.2:g.30237135dup	GRCh38
NC_000017.10:g.28564153dup , CM000679.1:g.28564153dup	GRCh37
NC_000017.9:g.25588279dup	NCBI36
NG_011747.2:g.3802dup

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+65dup
XR_001752824.1:n.280+65dup