Canonical Allele Identifier: CA1139667528

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191549_49191552del , CM000685.2:g.49191549_49191552del	GRCh38
NC_000023.10:g.49048006_49048009del , CM000685.1:g.49048006_49048009del	GRCh37
NC_000023.9:g.48934950_48934953del	NCBI36
NG_012532.1:g.13655_13658del

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.829_832del MANE Select	NP_003170.1:p.Asp277MetfsTer?
ENST00000263233.9:c.829_832del MANE Select	ENSP00000263233.4:p.Asp277MetfsTer?
NM_003179.2:c.829_832del	NP_003170.1:p.Asp277MetfsTer?
ENST00000263233.8:c.829_832del	ENSP00000263233.4:p.Asp277MetfsTer?
ENST00000376303.6:c.*581_*584del	ENSP00000365480.2:n.*581_*584del
ENST00000472598.5:c.498_501del
ENST00000479808.5:c.829_832del	ENSP00000418169.1:p.Asp277MetfsTer?
ENST00000689634.1:n.2416_2419del
ENST00000692723.1:n.855_858del
XM_011543950.1:c.508_511del	XP_011542252.1:p.Asp170MetfsTer?
XM_011543951.1:c.475_478del	XP_011542253.1:p.Asp159MetfsTer?