Canonical Allele Identifier: CA2427971137
Gene: SYN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573981_47573987delinsCTGCTGT , CM000685.2:g.47573981_47573987delinsCTGCTGT GRCh38
NC_000023.10:g.47433380_47433386delinsCTGCTGT , CM000685.1:g.47433380_47433386delinsCTGCTGT GRCh37
NC_000023.9:g.47318324_47318330delinsCTGCTGT NCBI36
NG_008437.1:g.50871_50877delinsACAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+15_1982+21delinsACAGCAG MANE Select ENSP00000295987.7:n.1982+15_1982+21delinsACAGCAG
ENST00000340666.5:c.1982+15_1982+21delinsACAGCAG ENSP00000343206.4:n.1982+15_1982+21delinsACAGCAG
ENST00000640721.1:c.70+701_70+707delinsACAGCAG ENSP00000492857.1:n.70+701_70+707delinsACAGCAG
ENST00000295987.11:c.1982+15_1982+21delinsACAGCAG ENSP00000295987.7:n.1982+15_1982+21delinsACAGCAG
ENST00000340666.4:c.1982+15_1982+21delinsACAGCAG ENSP00000343206.4:n.1982+15_1982+21delinsACAGCAG
NM_006950.3:c.1982+15_1982+21delinsACAGCAG MANE Select NP_008881.2:n.1982+15_1982+21delinsACAGCAG
NM_133499.2:c.1982+15_1982+21delinsACAGCAG NP_598006.1:n.1982+15_1982+21delinsACAGCAG