Canonical Allele Identifier: CA875818660

Gene: SYN1

Linked Data

• dbSNP Id: rs945976041
• gnomAD v4: X-47573001-TAG-T
• MyVariant Identifiers: chrX:g.47432401_47432402del (hg19) ; chrX:g.47573002_47573003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573009_47573010del , CM000685.2:g.47573009_47573010del	GRCh38
NC_000023.10:g.47432408_47432409del , CM000685.1:g.47432408_47432409del	GRCh37
NC_000023.9:g.47317352_47317353del	NCBI36
NG_008437.1:g.51855_51856del
NG_016339.1:g.16893_16894del
NG_016339.2:g.16893_16894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-4_1983-3del MANE Select	ENSP00000295987.7:n.1983-4_1983-3del
ENST00000340666.5:c.1983-42_1983-41del	ENSP00000343206.4:n.1983-42_1983-41del
ENST00000640721.1:c.71-42_71-41del	ENSP00000492857.1:n.71-42_71-41del
ENST00000295987.11:c.1983-4_1983-3del	ENSP00000295987.7:n.1983-4_1983-3del
ENST00000340666.4:c.1983-42_1983-41del	ENSP00000343206.4:n.1983-42_1983-41del
NM_006950.3:c.1983-4_1983-3del MANE Select	NP_008881.2:n.1983-4_1983-3del
NM_133499.2:c.1983-42_1983-41del	NP_598006.1:n.1983-42_1983-41del