Canonical Allele Identifier: CA2740094597
Community Standard Title: NM_004738.5(VAPB):c.159del (p.Cys53TrpfsTer2)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418311del , CM000682.2:g.58418311del GRCh38
NC_000020.10:g.56993367del , CM000682.1:g.56993367del GRCh37
NC_000020.9:g.56426773del NCBI36
NG_008073.2:g.34123del , LRG_656:g.34123del

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.159del MANE Select NP_004729.1:p.Cys53TrpfsTer2
ENST00000475243.6:c.159del MANE Select ENSP00000417175.1:p.Cys53TrpfsTer2
NM_001195677.1:c.159del NP_001182606.1:p.Cys53TrpfsTer2
NM_001195677.2:c.159del NP_001182606.1:p.Cys53TrpfsTer2
NM_004738.4:c.159del , LRG_656t1:c.159del NP_004729.1:p.Cys53TrpfsTer2
NR_036633.1:n.500del
NR_036633.2:n.390del
ENST00000265619.6:n.457del
ENST00000395802.7:c.159del ENSP00000379147.3:p.Cys53TrpfsTer2
ENST00000475243.5:c.159del ENSP00000417175.1:p.Cys53TrpfsTer2
ENST00000520497.1:c.159del ENSP00000430426.1:p.Cys53TrpfsTer2
XR_001754433.2:n.408del