Canonical Allele Identifier: CA2693584768

Gene: SYN1

Linked Data

• gnomAD v4: X-47574149-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574153del , CM000685.2:g.47574153del	GRCh38
NC_000023.10:g.47433552del , CM000685.1:g.47433552del	GRCh37
NC_000023.9:g.47318496del	NCBI36
NG_008437.1:g.50708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1834del MANE Select	ENSP00000295987.7:p.Arg612AlafsTer?
ENST00000340666.5:c.1834del	ENSP00000343206.4:p.Arg612AlafsTer?
ENST00000640721.1:c.70+538del	ENSP00000492857.1:n.70+538del
ENST00000295987.11:c.1834del	ENSP00000295987.7:p.Arg612AlafsTer?
ENST00000340666.4:c.1834del	ENSP00000343206.4:p.Arg612AlafsTer?
NM_006950.3:c.1834del MANE Select	NP_008881.2:p.Arg612AlafsTer?
NM_133499.2:c.1834del	NP_598006.1:p.Arg612AlafsTer?