Canonical Allele Identifier: CA2427971267

Gene: SYN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574333_47574337delinsAGGCG , CM000685.2:g.47574333_47574337delinsAGGCG	GRCh38
NC_000023.10:g.47433732_47433736delinsAGGCG , CM000685.1:g.47433732_47433736delinsAGGCG	GRCh37
NC_000023.9:g.47318676_47318680delinsAGGCG	NCBI36
NG_008437.1:g.50521_50525delinsCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1647_1651delinsCGCCT MANE Select	ENSP00000295987.7:p.Pro549=
ENST00000340666.5:c.1647_1651delinsCGCCT	ENSP00000343206.4:p.Pro549=
ENST00000640721.1:c.70+351_70+355delinsCGCCT	ENSP00000492857.1:n.70+351_70+355delinsCGCCT
ENST00000295987.11:c.1647_1651delinsCGCCT	ENSP00000295987.7:p.Pro549=
ENST00000340666.4:c.1647_1651delinsCGCCT	ENSP00000343206.4:p.Pro549=
NM_006950.3:c.1647_1651delinsCGCCT MANE Select	NP_008881.2:p.Pro549=
NM_133499.2:c.1647_1651delinsCGCCT	NP_598006.1:p.Pro549=