Canonical Allele Identifier: CA1085755590

Gene:

Linked Data

• dbSNP Id: rs1760011765
• gnomAD v3: 6-8228610-C-CT
• gnomAD v4: 6-8228610-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8228612dup , CM000668.2:g.8228612dup	GRCh38
NC_000006.11:g.8228845dup , CM000668.1:g.8228845dup	GRCh37
NC_000006.10:g.8173844dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.83-1502dup
XR_926441.1:n.190-10319dup
XR_926442.1:n.83-1502dup
XR_926443.1:n.83-10319dup
XR_001743950.1:n.180-10319dup
XR_926440.2:n.75-1502dup
XR_926441.2:n.180-10319dup
XR_926443.2:n.84-10319dup