Canonical Allele Identifier: CA2427970805
Gene: SYN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572955_47572956delinsGC , CM000685.2:g.47572955_47572956delinsGC GRCh38
NC_000023.10:g.47432354_47432355delinsGC , CM000685.1:g.47432354_47432355delinsGC GRCh37
NC_000023.9:g.47317298_47317299delinsGC NCBI36
NG_008437.1:g.51902_51903delinsGC
NG_016339.1:g.16839_16840delinsGC
NG_016339.2:g.16839_16840delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2026_2027delinsGC MANE Select ENSP00000295987.7:p.Ala676=
ENST00000340666.5:c.1988_1989delinsGC ENSP00000343206.4:p.Ser663=
ENST00000640721.1:c.76_77delinsGC ENSP00000492857.1:p.Ala26=
ENST00000295987.11:c.2026_2027delinsGC ENSP00000295987.7:p.Ala676=
ENST00000340666.4:c.1988_1989delinsGC ENSP00000343206.4:p.Ser663=
NM_006950.3:c.2026_2027delinsGC MANE Select NP_008881.2:p.Ala676=
NM_133499.2:c.1988_1989delinsGC NP_598006.1:p.Ser663=
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