Canonical Allele Identifier: CA2740092150
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3010198
ClinVar RCV Id: RCV003867373
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573982_47573994delinsA , CM000685.2:g.47573982_47573994delinsA GRCh38
NC_000023.10:g.47433381_47433393delinsA , CM000685.1:g.47433381_47433393delinsA GRCh37
NC_000023.9:g.47318325_47318337delinsA NCBI36
NG_008437.1:g.50864_50876delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+8_1982+20delinsT MANE Select ENSP00000295987.7:n.1982+8_1982+20delinsT
ENST00000340666.5:c.1982+8_1982+20delinsT ENSP00000343206.4:n.1982+8_1982+20delinsT
ENST00000640721.1:c.70+694_70+706delinsT ENSP00000492857.1:n.70+694_70+706delinsT
ENST00000295987.11:c.1982+8_1982+20delinsT ENSP00000295987.7:n.1982+8_1982+20delinsT
ENST00000340666.4:c.1982+8_1982+20delinsT ENSP00000343206.4:n.1982+8_1982+20delinsT
NM_006950.3:c.1982+8_1982+20delinsT MANE Select NP_008881.2:n.1982+8_1982+20delinsT
NM_133499.2:c.1982+8_1982+20delinsT NP_598006.1:n.1982+8_1982+20delinsT
Search 100 bp 5'
Search 100 bp 3'