Canonical Allele Identifier: CA2740094596

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58418274_58418275del , CM000682.2:g.58418274_58418275del	GRCh38
NC_000020.10:g.56993330_56993331del , CM000682.1:g.56993330_56993331del	GRCh37
NC_000020.9:g.56426736_56426737del	NCBI36
NG_008073.2:g.34086_34087del , LRG_656:g.34086_34087del

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.122_123del MANE Select	NP_004729.1:p.Cys41PhefsTer2
ENST00000475243.6:c.122_123del MANE Select	ENSP00000417175.1:p.Cys41PhefsTer2
NM_001195677.1:c.122_123del	NP_001182606.1:p.Cys41PhefsTer2
NM_001195677.2:c.122_123del	NP_001182606.1:p.Cys41PhefsTer2
NM_004738.4:c.122_123del , LRG_656t1:c.122_123del	NP_004729.1:p.Cys41PhefsTer2
NR_036633.1:n.463_464del
NR_036633.2:n.353_354del
ENST00000265619.6:n.420_421del
ENST00000395802.7:c.122_123del	ENSP00000379147.3:p.Cys41PhefsTer2
ENST00000475243.5:c.122_123del	ENSP00000417175.1:p.Cys41PhefsTer2
ENST00000520497.1:c.122_123del	ENSP00000430426.1:p.Cys41PhefsTer2
XR_001754433.2:n.371_372del