Canonical Allele Identifier: CA641900857

Gene: SYN1

Linked Data

• dbSNP Id: rs1165578704
• gnomAD v2: X-47433380-CTGCTGT-C
• gnomAD v3: X-47573981-CTGCTGT-C
• gnomAD v4: X-47573981-CTGCTGT-C
• MyVariant Identifiers: chrX:g.47433381_47433386del (hg19) ; chrX:g.47573982_47573987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573982_47573987del , CM000685.2:g.47573982_47573987del	GRCh38
NC_000023.10:g.47433381_47433386del , CM000685.1:g.47433381_47433386del	GRCh37
NC_000023.9:g.47318325_47318330del	NCBI36
NG_008437.1:g.50871_50876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1982+15_1982+20del MANE Select	ENSP00000295987.7:n.1982+15_1982+20del
ENST00000340666.5:c.1982+15_1982+20del	ENSP00000343206.4:n.1982+15_1982+20del
ENST00000640721.1:c.70+701_70+706del	ENSP00000492857.1:n.70+701_70+706del
ENST00000295987.11:c.1982+15_1982+20del	ENSP00000295987.7:n.1982+15_1982+20del
ENST00000340666.4:c.1982+15_1982+20del	ENSP00000343206.4:n.1982+15_1982+20del
NM_006950.3:c.1982+15_1982+20del MANE Select	NP_008881.2:n.1982+15_1982+20del
NM_133499.2:c.1982+15_1982+20del	NP_598006.1:n.1982+15_1982+20del