Canonical Allele Identifier: CA2693584494

Gene: SYN1

Linked Data

• gnomAD v4: X-47573993-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573997del , CM000685.2:g.47573997del	GRCh38
NC_000023.10:g.47433396del , CM000685.1:g.47433396del	GRCh37
NC_000023.9:g.47318340del	NCBI36
NG_008437.1:g.50864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1982+8del MANE Select	ENSP00000295987.7:n.1982+8del
ENST00000340666.5:c.1982+8del	ENSP00000343206.4:n.1982+8del
ENST00000640721.1:c.70+694del	ENSP00000492857.1:n.70+694del
ENST00000295987.11:c.1982+8del	ENSP00000295987.7:n.1982+8del
ENST00000340666.4:c.1982+8del	ENSP00000343206.4:n.1982+8del
NM_006950.3:c.1982+8del MANE Select	NP_008881.2:n.1982+8del
NM_133499.2:c.1982+8del	NP_598006.1:n.1982+8del