Canonical Allele Identifier: CA4430778

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107248458_107248461del , CM000669.2:g.107248458_107248461del	GRCh38
NC_000007.13:g.106888903_106888906del , CM000669.1:g.106888903_106888906del	GRCh37
NC_000007.12:g.106676139_106676142del	NCBI36
NG_028095.1:g.321057_321060del
NG_028095.2:g.321057_321060del

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.1791_1794del MANE Select	NP_006339.4:p.Thr598LeufsTer6
ENST00000297135.9:c.1791_1794del MANE Select	ENSP00000297135.4:p.Thr598LeufsTer6
NM_001161520.1:c.1884_1887del	NP_001154992.1:p.Thr629LeufsTer6
NM_001161520.2:c.1791_1794del	NP_001154992.2:p.Thr598LeufsTer6
NM_001379511.1:c.1629_1632del	NP_001366440.1:p.Thr544LeufsTer6
NM_001379512.1:c.1617_1620del	NP_001366441.1:p.Thr540LeufsTer6
NM_001379513.1:c.1791_1794del	NP_001366442.1:p.Thr598LeufsTer6
NM_001379514.1:c.1791_1794del	NP_001366443.1:p.Thr598LeufsTer6
NM_001379515.1:c.1221_1224del	NP_001366444.1:p.Thr408LeufsTer6
NM_001379516.1:c.1077_1080del	NP_001366445.1:p.Thr360LeufsTer6
NM_006348.3:c.1884_1887del	NP_006339.3:p.Thr629LeufsTer6
NM_006348.4:c.1791_1794del	NP_006339.4:p.Thr598LeufsTer6
NM_181733.2:c.1821_1824del	NP_859422.2:p.Thr608LeufsTer6
NM_181733.3:c.1728_1731del	NP_859422.3:p.Thr577LeufsTer6
NM_181733.4:c.1728_1731del	NP_859422.3:p.Thr577LeufsTer6
ENST00000297135.7:c.1884_1887del	ENSP00000297135.3:p.Thr629LeufsTer6
ENST00000347053.7:c.1821_1824del	ENSP00000334703.2:p.Thr608LeufsTer6
ENST00000347053.8:c.1728_1731del	ENSP00000334703.3:p.Thr577LeufsTer6
ENST00000393603.6:c.1884_1887del	ENSP00000377228.2:p.Thr629LeufsTer6
ENST00000393603.7:c.1791_1794del	ENSP00000377228.3:p.Thr598LeufsTer6
ENST00000462342.1:n.482_485del
ENST00000464542.5:n.242_245del
ENST00000468350.5:n.386_389del