Canonical Allele Identifier: CA2427971148
Gene: SYN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574008_47574009delinsTG , CM000685.2:g.47574008_47574009delinsTG GRCh38
NC_000023.10:g.47433407_47433408delinsTG , CM000685.1:g.47433407_47433408delinsTG GRCh37
NC_000023.9:g.47318351_47318352delinsTG NCBI36
NG_008437.1:g.50849_50850delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1975_1976delinsCA MANE Select ENSP00000295987.7:p.Gln659=
ENST00000340666.5:c.1975_1976delinsCA ENSP00000343206.4:p.Gln659=
ENST00000640721.1:c.70+679_70+680delinsCA ENSP00000492857.1:n.70+679_70+680delinsCA
ENST00000295987.11:c.1975_1976delinsCA ENSP00000295987.7:p.Gln659=
ENST00000340666.4:c.1975_1976delinsCA ENSP00000343206.4:p.Gln659=
NM_006950.3:c.1975_1976delinsCA MANE Select NP_008881.2:p.Gln659=
NM_133499.2:c.1975_1976delinsCA NP_598006.1:p.Gln659=