Canonical Allele Identifier: CA2693583871

Gene: SYN1

Linked Data

• gnomAD v4: X-47572852-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572855_47572856del , CM000685.2:g.47572855_47572856del	GRCh38
NC_000023.10:g.47432254_47432255del , CM000685.1:g.47432254_47432255del	GRCh37
NC_000023.9:g.47317198_47317199del	NCBI36
NG_008437.1:g.52004_52005del
NG_016339.1:g.16739_16740del
NG_016339.2:g.16739_16740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.*10_*11del MANE Select	ENSP00000295987.7:n.*10_*11del
ENST00000340666.5:c.*80_*81del	ENSP00000343206.4:n.*80_*81del
ENST00000640721.1:c.178_179del	ENSP00000492857.1:n.178_179del
ENST00000295987.11:c.*10_*11del	ENSP00000295987.7:n.*10_*11del
ENST00000340666.4:c.*80_*81del	ENSP00000343206.4:n.*80_*81del
NM_006950.3:c.*10_*11del MANE Select	NP_008881.2:n.*10_*11del
NM_133499.2:c.*80_*81del	NP_598006.1:n.*80_*81del