Canonical Allele Identifier: CA10398357

Gene: SYN1

Linked Data

• dbSNP Id: rs769212849
• ExAC: X:47434044 GCGGGCTGAGGGA / G
• gnomAD v2: X-47434044-GCGGGCTGAGGGA-G
• gnomAD v4: X-47574645-GCGGGCTGAGGGA-G
• MyVariant Identifiers: chrX:g.47434045_47434056del (hg19) ; chrX:g.47574646_47574657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574646_47574657del , CM000685.2:g.47574646_47574657del	GRCh38
NC_000023.10:g.47434045_47434056del , CM000685.1:g.47434045_47434056del	GRCh37
NC_000023.9:g.47318989_47319000del	NCBI36
NG_008437.1:g.50201_50212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1393+31_1393+42del MANE Select	ENSP00000295987.7:n.1393+31_1393+42del
ENST00000340666.5:c.1393+31_1393+42del	ENSP00000343206.4:n.1393+31_1393+42del
ENST00000640721.1:c.70+31_70+42del	ENSP00000492857.1:n.70+31_70+42del
ENST00000295987.11:c.1393+31_1393+42del	ENSP00000295987.7:n.1393+31_1393+42del
ENST00000340666.4:c.1393+31_1393+42del	ENSP00000343206.4:n.1393+31_1393+42del
NM_006950.3:c.1393+31_1393+42del MANE Select	NP_008881.2:n.1393+31_1393+42del
NM_133499.2:c.1393+31_1393+42del	NP_598006.1:n.1393+31_1393+42del