Canonical Allele Identifier: CA2954899343
Gene: SYP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49191419del , CM000685.2:g.49191419del GRCh38
NC_000023.10:g.49047876del , CM000685.1:g.49047876del GRCh37
NC_000023.9:g.48934820del NCBI36
NG_012532.1:g.13786del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689634.1:n.2547del
ENST00000692723.1:n.972+14del
ENST00000263233.9:c.*4+14del MANE Select ENSP00000263233.4:n.*4+14del
ENST00000263233.8:c.*4+14del ENSP00000263233.4:n.*4+14del
ENST00000376303.6:c.*698+14del ENSP00000365480.2:n.*698+14del
ENST00000472598.5:c.615+14del
ENST00000479808.5:c.*18del ENSP00000418169.1:n.*18del
NM_003179.2:c.*4+14del NP_003170.1:n.*4+14del
XM_011543950.1:c.*4+14del XP_011542252.1:n.*4+14del
XM_011543951.1:c.*4+14del XP_011542253.1:n.*4+14del
NM_003179.3:c.*4+14del MANE Select NP_003170.1:n.*4+14del