Canonical Allele Identifier: CA2954899298
Gene: SYP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49191409_49191410del , CM000685.2:g.49191409_49191410del GRCh38
NC_000023.10:g.49047866_49047867del , CM000685.1:g.49047866_49047867del GRCh37
NC_000023.9:g.48934810_48934811del NCBI36
NG_012532.1:g.13795_13796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689634.1:n.2556_2557del
ENST00000692723.1:n.972+23_972+24del
ENST00000263233.9:c.*4+23_*4+24del MANE Select ENSP00000263233.4:n.*4+23_*4+24del
ENST00000263233.8:c.*4+23_*4+24del ENSP00000263233.4:n.*4+23_*4+24del
ENST00000376303.6:c.*698+23_*698+24del ENSP00000365480.2:n.*698+23_*698+24del
ENST00000472598.5:c.615+23_615+24del
ENST00000479808.5:c.*27_*28del ENSP00000418169.1:n.*27_*28del
NM_003179.2:c.*4+23_*4+24del NP_003170.1:n.*4+23_*4+24del
XM_011543950.1:c.*4+23_*4+24del XP_011542252.1:n.*4+23_*4+24del
XM_011543951.1:c.*4+23_*4+24del XP_011542253.1:n.*4+23_*4+24del
NM_003179.3:c.*4+23_*4+24del MANE Select NP_003170.1:n.*4+23_*4+24del