Canonical Allele Identifier: CA2693703297

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191327_49191343del , CM000685.2:g.49191327_49191343del	GRCh38
NC_000023.10:g.49047784_49047800del , CM000685.1:g.49047784_49047800del	GRCh37
NC_000023.9:g.48934728_48934744del	NCBI36
NG_012532.1:g.13862_13878del

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.*4+90_*4+106del MANE Select	NP_003170.1:n.*4+90_*4+106del
ENST00000263233.9:c.*4+90_*4+106del MANE Select	ENSP00000263233.4:n.*4+90_*4+106del
NM_003179.2:c.*4+90_*4+106del	NP_003170.1:n.*4+90_*4+106del
ENST00000263233.8:c.*4+90_*4+106del	ENSP00000263233.4:n.*4+90_*4+106del
ENST00000376303.6:c.*698+90_*698+106del	ENSP00000365480.2:n.*698+90_*698+106del
ENST00000472598.5:c.615+90_615+106del
ENST00000479808.5:c.*94_*110del	ENSP00000418169.1:n.*94_*110del
ENST00000689634.1:n.2623_2639del
ENST00000692723.1:n.972+90_972+106del
XM_011543950.1:c.*4+90_*4+106del	XP_011542252.1:n.*4+90_*4+106del
XM_011543951.1:c.*4+90_*4+106del	XP_011542253.1:n.*4+90_*4+106del