Canonical Allele Identifier: CA412822546
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47574187_47574189del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574188_47574190del , CM000685.2:g.47574188_47574190del GRCh38
NC_000023.10:g.47433587_47433589del , CM000685.1:g.47433587_47433589del GRCh37
NC_000023.9:g.47318531_47318533del NCBI36
NG_008437.1:g.50669_50671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1795_1797del MANE Select ENSP00000295987.7:p.Gly599del
ENST00000340666.5:c.1795_1797del ENSP00000343206.4:p.Gly599del
ENST00000640721.1:c.70+499_70+501del ENSP00000492857.1:n.70+499_70+501del
ENST00000295987.11:c.1795_1797del ENSP00000295987.7:p.Gly599del
ENST00000340666.4:c.1795_1797del ENSP00000343206.4:p.Gly599del
NM_006950.3:c.1795_1797del MANE Select NP_008881.2:p.Gly599del
NM_133499.2:c.1795_1797del NP_598006.1:p.Gly599del
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