Canonical Allele Identifier: CA2740094600
Community Standard Title: NM_004738.5(VAPB):c.316-3del
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58438942del , CM000682.2:g.58438942del GRCh38
NC_000020.10:g.57013998del , CM000682.1:g.57013998del GRCh37
NC_000020.9:g.56447404del NCBI36
NG_008073.2:g.54754del , LRG_656:g.54754del

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.316-3del MANE Select NP_004729.1:n.316-3del
ENST00000475243.6:c.316-3del MANE Select ENSP00000417175.1:n.316-3del
NM_001195677.1:c.212-5135del NP_001182606.1:n.212-5135del
NM_001195677.2:c.212-5135del NP_001182606.1:n.212-5135del
NM_004738.4:c.316-3del , LRG_656t1:c.316-3del NP_004729.1:n.316-3del
NR_036633.1:n.553-1965del
NR_036633.2:n.443-1965del
ENST00000265619.6:n.510-3del
ENST00000395802.7:c.212-5135del ENSP00000379147.3:n.212-5135del
ENST00000463370.5:n.660-3del
ENST00000475243.5:c.316-3del ENSP00000417175.1:n.316-3del
ENST00000520497.1:c.212-1965del ENSP00000430426.1:n.212-1965del
XR_001754433.2:n.565-3del