Canonical Allele Identifier: CA2580614984

Gene: VPS16 PTPRA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2864442del , CM000682.2:g.2864442del	GRCh38
NC_000020.10:g.2845088del , CM000682.1:g.2845088del	GRCh37
NC_000020.9:g.2793088del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022575.4:c.1798del (VPS16) MANE Select	NP_072097.2:p.Ala600ProfsTer14
ENST00000380445.8:c.1798del (VPS16) MANE Select	ENSP00000369810.3:p.Ala600ProfsTer14
NM_002836.3:c.-505del (PTPRA)	NP_002827.1:n.-505del
NM_002836.4:c.-505del (PTPRA)	NP_002827.1:n.-505del
NM_022575.3:c.1798del (VPS16)	NP_072097.2:p.Ala600ProfsTer14
NM_080413.2:c.1366del (VPS16)	NP_536338.1:p.Ala456ProfsTer14
NM_080413.3:c.1366del (VPS16)	NP_536338.1:p.Ala456ProfsTer14
ENST00000380393.7:c.-505del (PTPRA)	ENSP00000369756.3:n.-505del
ENST00000380443.5:n.945del (VPS16)
ENST00000380445.7:c.1798del (VPS16)	ENSP00000369810.3:p.Ala600ProfsTer14
ENST00000380469.7:c.1366del (VPS16)	ENSP00000369836.3:p.Ala456ProfsTer14
ENST00000487461.1:n.445del (VPS16)