Canonical Allele Identifier: CA2820775721

Gene: SYN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574218_47574219insAGCAGCG , CM000685.2:g.47574218_47574219insAGCAGCG	GRCh38
NC_000023.10:g.47433617_47433618insAGCAGCG , CM000685.1:g.47433617_47433618insAGCAGCG	GRCh37
NC_000023.9:g.47318561_47318562insAGCAGCG	NCBI36
NG_008437.1:g.50639_50640insCGCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1765_1766insCGCTGCT MANE Select	ENSP00000295987.7:p.Gly589AlafsTer?
ENST00000340666.5:c.1765_1766insCGCTGCT	ENSP00000343206.4:p.Gly589AlafsTer?
ENST00000640721.1:c.70+469_70+470insCGCTGCT	ENSP00000492857.1:n.70+469_70+470insCGCTGCT
ENST00000295987.11:c.1765_1766insCGCTGCT	ENSP00000295987.7:p.Gly589AlafsTer?
ENST00000340666.4:c.1765_1766insCGCTGCT	ENSP00000343206.4:p.Gly589AlafsTer?
NM_006950.3:c.1765_1766insCGCTGCT MANE Select	NP_008881.2:p.Gly589AlafsTer?
NM_133499.2:c.1765_1766insCGCTGCT	NP_598006.1:p.Gly589AlafsTer?