Canonical Allele Identifier: CA875819030
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1924999
ClinVar RCV Id: RCV002614218
dbSNP Id: rs1400476778
MyVariant Identifiers: chrX:g.47433381_47433392del (hg19) chrX:g.47573982_47573993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573982_47573993del , CM000685.2:g.47573982_47573993del GRCh38
NC_000023.10:g.47433381_47433392del , CM000685.1:g.47433381_47433392del GRCh37
NC_000023.9:g.47318325_47318336del NCBI36
NG_008437.1:g.50865_50876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+9_1982+20del MANE Select ENSP00000295987.7:n.1982+9_1982+20del
ENST00000340666.5:c.1982+9_1982+20del ENSP00000343206.4:n.1982+9_1982+20del
ENST00000640721.1:c.70+695_70+706del ENSP00000492857.1:n.70+695_70+706del
ENST00000295987.11:c.1982+9_1982+20del ENSP00000295987.7:n.1982+9_1982+20del
ENST00000340666.4:c.1982+9_1982+20del ENSP00000343206.4:n.1982+9_1982+20del
NM_006950.3:c.1982+9_1982+20del MANE Select NP_008881.2:n.1982+9_1982+20del
NM_133499.2:c.1982+9_1982+20del NP_598006.1:n.1982+9_1982+20del
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