Canonical Allele Identifier: CA645603180
Gene: SYN1 HGNC NCBI

Linked Data

COSMIC: COSM5702081
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572870_47572871delinsTT , CM000685.2:g.47572870_47572871delinsTT GRCh38
NC_000023.10:g.47432269_47432270delinsTT , CM000685.1:g.47432269_47432270delinsTT GRCh37
NC_000023.9:g.47317213_47317214delinsTT NCBI36
NG_008437.1:g.51987_51988delinsAA
NG_016339.1:g.16754_16755delinsTT
NG_016339.2:g.16754_16755delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2111_2112delinsAA MANE Select ENSP00000295987.7:p.Ser704Ter
ENST00000340666.5:c.*63_*64delinsAA ENSP00000343206.4:n.*63_*64delinsAA
ENST00000640721.1:c.161_162delinsAA ENSP00000492857.1:p.Ser54Ter
ENST00000295987.11:c.2111_2112delinsAA ENSP00000295987.7:p.Ser704Ter
ENST00000340666.4:c.*63_*64delinsAA ENSP00000343206.4:n.*63_*64delinsAA
NM_006950.3:c.2111_2112delinsAA MANE Select NP_008881.2:p.Ser704Ter
NM_133499.2:c.*63_*64delinsAA NP_598006.1:n.*63_*64delinsAA
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