Canonical Allele Identifier: CA2580060572

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12403869del , CM000663.2:g.12403869del	GRCh38
NC_000001.10:g.12463922del , CM000663.1:g.12463922del	GRCh37
NC_000001.9:g.12386509del	NCBI36
NG_056877.1:g.178831del

Transcript Alleles

HGVS	Amino-acid Change
NM_015378.4:c.11926del MANE Select	NP_056193.2:p.Gln3976LysfsTer22
ENST00000620676.6:c.11926del MANE Select	ENSP00000478104.1:p.Gln3976LysfsTer22
NM_015378.3:c.11926del	NP_056193.2:p.Gln3976LysfsTer22
NM_018156.3:c.11851del	NP_060626.2:p.Gln3951LysfsTer22
NM_018156.4:c.11851del	NP_060626.2:p.Gln3951LysfsTer22
ENST00000011700.10:c.8391del
ENST00000466732.2:c.298del	ENSP00000473375.1:n.298del
ENST00000543710.5:n.1510del
ENST00000613099.4:c.11851del	ENSP00000482233.1:p.Gln3951LysfsTer22
ENST00000620676.4:c.11926del	ENSP00000478104.1:p.Gln3976LysfsTer22
ENST00000645371.1:c.716del
ENST00000646411.1:n.1959del