Canonical Allele Identifier: CA10649972

Gene: VAPB

Linked Data

• ClinVar Variation Id: 338923
• ClinVar RCV Id: RCV000333178 ; RCV000369109
• dbSNP Id: rs886056808
• gnomAD v2: 20-56964357-G-GC
• gnomAD v3: 20-58389301-G-GC
• gnomAD v4: 20-58389301-G-GC
• MyVariant Identifiers: chr20:g.56964357_56964358insC (hg19) ; chr20:g.58389301_58389302insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58389301_58389302insC , CM000682.2:g.58389301_58389302insC	GRCh38
NC_000020.10:g.56964357_56964358insC , CM000682.1:g.56964357_56964358insC	GRCh37
NC_000020.9:g.56397763_56397764insC	NCBI36
NG_008073.2:g.5113_5114insC , LRG_656:g.5113_5114insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.-159_-158insC MANE Select	ENSP00000417175.1:n.-159_-158insC
ENST00000475243.5:c.-159_-158insC	ENSP00000417175.1:n.-159_-158insC
NM_001195677.1:c.-159_-158insC	NP_001182606.1:n.-159_-158insC
NM_004738.4:c.-159_-158insC , LRG_656t1:c.-159_-158insC	NP_004729.1:n.-159_-158insC
NR_036633.1:n.183_184insC
XR_001754433.2:n.91_92insC
NM_001195677.2:c.-159_-158insC	NP_001182606.1:n.-159_-158insC
NM_004738.5:c.-159_-158insC MANE Select	NP_004729.1:n.-159_-158insC
NR_036633.2:n.73_74insC