Canonical Allele Identifier: CA9924175

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58418266_58418270del , CM000682.2:g.58418266_58418270del	GRCh38
NC_000020.10:g.56993322_56993326del , CM000682.1:g.56993322_56993326del	GRCh37
NC_000020.9:g.56426728_56426732del	NCBI36
NG_008073.2:g.34078_34082del , LRG_656:g.34078_34082del

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.114_118del MANE Select	NP_004729.1:p.Asn39ValfsTer3
ENST00000475243.6:c.114_118del MANE Select	ENSP00000417175.1:p.Asn39ValfsTer3
NM_001195677.1:c.114_118del	NP_001182606.1:p.Asn39ValfsTer3
NM_001195677.2:c.114_118del	NP_001182606.1:p.Asn39ValfsTer3
NM_004738.4:c.114_118del , LRG_656t1:c.114_118del	NP_004729.1:p.Asn39ValfsTer3
NR_036633.1:n.455_459del
NR_036633.2:n.345_349del
ENST00000265619.6:n.412_416del
ENST00000395802.7:c.114_118del	ENSP00000379147.3:p.Asn39ValfsTer3
ENST00000475243.5:c.114_118del	ENSP00000417175.1:p.Asn39ValfsTer3
ENST00000520497.1:c.114_118del	ENSP00000430426.1:p.Asn39ValfsTer3
XR_001754433.2:n.363_367del