Canonical Allele Identifier: CA9924087

Gene: VAPB

Linked Data

• ClinVar Variation Id: 338921
• ClinVar RCV Id: RCV000308817 ; RCV000404362
• dbSNP Id: rs765965868
• ExAC: 20:56964313 G / GCCTCGC
• gnomAD v2: 20-56964313-G-GCCTCGC
• gnomAD v3: 20-58389257-G-GCCTCGC
• gnomAD v4: 20-58389257-G-GCCTCGC
• MyVariant Identifiers: chr20:g.56964324_56964329dupGCCCTC (hg19) ; chr20:g.56964319_56964320insCCTCGC (hg19) ; chr20:g.56964313_56964314insCCTCGC (hg19) ; chr20:g.58389268_58389273dupGCCCTC (hg38) ; chr20:g.58389257_58389258insCCTCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58389268_58389273dup , CM000682.2:g.58389268_58389273dup	GRCh38
NC_000020.10:g.56964324_56964329dup , CM000682.1:g.56964324_56964329dup	GRCh37
NC_000020.9:g.56397730_56397735dup	NCBI36
NG_008073.2:g.5080_5085dup , LRG_656:g.5080_5085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.-192_-187dup MANE Select	ENSP00000417175.1:n.-192_-187dup
ENST00000475243.5:c.-192_-187dup	ENSP00000417175.1:n.-192_-187dup
NM_001195677.1:c.-192_-187dup	NP_001182606.1:n.-192_-187dup
NM_004738.4:c.-192_-187dup , LRG_656t1:c.-192_-187dup	NP_004729.1:n.-192_-187dup
NR_036633.1:n.150_155dup
XR_001754433.2:n.58_63dup
NM_001195677.2:c.-192_-187dup	NP_001182606.1:n.-192_-187dup
NM_004738.5:c.-192_-187dup MANE Select	NP_004729.1:n.-192_-187dup
NR_036633.2:n.40_45dup