Canonical Allele Identifier: CA641900860

Gene: SYN1

Linked Data

• dbSNP Id: rs1428602164
• gnomAD v2: X-47433387-AGGGGTC-A
• gnomAD v3: X-47573988-AGGGGTC-A
• gnomAD v4: X-47573988-AGGGGTC-A
• MyVariant Identifiers: chrX:g.47433388_47433393del (hg19) ; chrX:g.47573989_47573994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573989_47573994del , CM000685.2:g.47573989_47573994del	GRCh38
NC_000023.10:g.47433388_47433393del , CM000685.1:g.47433388_47433393del	GRCh37
NC_000023.9:g.47318332_47318337del	NCBI36
NG_008437.1:g.50864_50869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1982+8_1982+13del MANE Select	ENSP00000295987.7:n.1982+8_1982+13del
ENST00000340666.5:c.1982+8_1982+13del	ENSP00000343206.4:n.1982+8_1982+13del
ENST00000640721.1:c.70+694_70+699del	ENSP00000492857.1:n.70+694_70+699del
ENST00000295987.11:c.1982+8_1982+13del	ENSP00000295987.7:n.1982+8_1982+13del
ENST00000340666.4:c.1982+8_1982+13del	ENSP00000343206.4:n.1982+8_1982+13del
NM_006950.3:c.1982+8_1982+13del MANE Select	NP_008881.2:n.1982+8_1982+13del
NM_133499.2:c.1982+8_1982+13del	NP_598006.1:n.1982+8_1982+13del