Canonical Allele Identifier: CA2427971205
Gene: SYN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574180_47574181delinsGT , CM000685.2:g.47574180_47574181delinsGT GRCh38
NC_000023.10:g.47433579_47433580delinsGT , CM000685.1:g.47433579_47433580delinsGT GRCh37
NC_000023.9:g.47318523_47318524delinsGT NCBI36
NG_008437.1:g.50677_50678delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1803_1804delinsAC MANE Select ENSP00000295987.7:p.Thr601=
ENST00000340666.5:c.1803_1804delinsAC ENSP00000343206.4:p.Thr601=
ENST00000640721.1:c.70+507_70+508delinsAC ENSP00000492857.1:n.70+507_70+508delinsAC
ENST00000295987.11:c.1803_1804delinsAC ENSP00000295987.7:p.Thr601=
ENST00000340666.4:c.1803_1804delinsAC ENSP00000343206.4:p.Thr601=
NM_006950.3:c.1803_1804delinsAC MANE Select NP_008881.2:p.Thr601=
NM_133499.2:c.1803_1804delinsAC NP_598006.1:p.Thr601=
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