Canonical Allele Identifier: CA2693583960

Gene: SYN1

Linked Data

• gnomAD v4: X-47573026-G-GGAGGAAGGGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573037_47573049dup , CM000685.2:g.47573037_47573049dup	GRCh38
NC_000023.10:g.47432436_47432448dup , CM000685.1:g.47432436_47432448dup	GRCh37
NC_000023.9:g.47317380_47317392dup	NCBI36
NG_008437.1:g.51819_51831dup
NG_016339.1:g.16921_16933dup
NG_016339.2:g.16921_16933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-40_1983-28dup MANE Select	ENSP00000295987.7:n.1983-40_1983-28dup
ENST00000340666.5:c.1983-78_1983-66dup	ENSP00000343206.4:n.1983-78_1983-66dup
ENST00000640721.1:c.71-78_71-66dup	ENSP00000492857.1:n.71-78_71-66dup
ENST00000295987.11:c.1983-40_1983-28dup	ENSP00000295987.7:n.1983-40_1983-28dup
ENST00000340666.4:c.1983-78_1983-66dup	ENSP00000343206.4:n.1983-78_1983-66dup
NM_006950.3:c.1983-40_1983-28dup MANE Select	NP_008881.2:n.1983-40_1983-28dup
NM_133499.2:c.1983-78_1983-66dup	NP_598006.1:n.1983-78_1983-66dup