Canonical Allele Identifier: CA9924096
Gene: VAPB HGNC NCBI

Linked Data

ClinVar Variation Id: 338925
ClinVar RCV Id: RCV000280776 RCV000375322 RCV001636946
dbSNP Id: rs546898989
ExAC: 20:56964358 A / AC
gnomAD v2: 20-56964358-A-AC
gnomAD v3: 20-58389302-A-AC
gnomAD v4: 20-58389302-A-AC
MyVariant Identifiers: chr20:g.56964367dupC (hg19) chr20:g.56964359_56964360insC (hg19) chr20:g.56964358_56964359insC (hg19) chr20:g.58389311dupC (hg38) chr20:g.58389303_58389304insC (hg38) chr20:g.58389302_58389303insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58389311dup , CM000682.2:g.58389311dup GRCh38
NC_000020.10:g.56964367dup , CM000682.1:g.56964367dup GRCh37
NC_000020.9:g.56397773dup NCBI36
NG_008073.2:g.5123dup , LRG_656:g.5123dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000475243.6:c.-149dup MANE Select ENSP00000417175.1:n.-149dup
ENST00000475243.5:c.-149dup ENSP00000417175.1:n.-149dup
NM_001195677.1:c.-149dup NP_001182606.1:n.-149dup
NM_004738.4:c.-149dup , LRG_656t1:c.-149dup NP_004729.1:n.-149dup
NR_036633.1:n.193dup
XR_001754433.2:n.101dup
NM_001195677.2:c.-149dup NP_001182606.1:n.-149dup
NM_004738.5:c.-149dup MANE Select NP_004729.1:n.-149dup
NR_036633.2:n.83dup
Search 100 bp 5'
Search 100 bp 3'