Canonical Allele Identifier: CA2230762772

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483766_70483774delinsTTCCTTGCA , CM000678.2:g.70483766_70483774delinsTTCCTTGCA	GRCh38
NC_000016.9:g.70517669_70517677delinsTTCCTTGCA , CM000678.1:g.70517669_70517677delinsTTCCTTGCA	GRCh37
NC_000016.8:g.69075170_69075178delinsTTCCTTGCA	NCBI36
NG_027529.1:g.44781_44789delinsTGCAAGGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1903+79_*1903+87delinsTGCAAGGAA	ENSP00000461912.2:n.*1903+79_*1903+87deli...
ENST00000703106.1:c.1872+79_1872+87delinsTGCAAGGAA	ENSP00000515173.1:n.1872+79_1872+87delins...
ENST00000703107.1:c.*1756+79_*1756+87delinsTGCAAGGAA	ENSP00000515174.1:n.*1756+79_*1756+87deli...
ENST00000703108.1:c.*275+79_*275+87delinsTGCAAGGAA	ENSP00000515175.1:n.*275+79_*275+87delins...
ENST00000703109.1:c.1860+79_1860+87delinsTGCAAGGAA	ENSP00000515176.1:n.1860+79_1860+87delins...
ENST00000703110.1:c.*1329+79_*1329+87delinsTGCAAGGAA	ENSP00000515177.1:n.*1329+79_*1329+87deli...
ENST00000703111.1:n.1834+79_1834+87delinsTGCAAGGAA
ENST00000703112.1:n.2600+79_2600+87delinsTGCAAGGAA
ENST00000703113.1:c.*1240+79_*1240+87delinsTGCAAGGAA	ENSP00000515178.1:n.*1240+79_*1240+87deli...
ENST00000703114.1:c.*476+79_*476+87delinsTGCAAGGAA	ENSP00000515179.1:n.*476+79_*476+87delins...
ENST00000703115.1:c.940+79_940+87delinsTGCAAGGAA	ENSP00000515180.1:n.940+79_940+87delinsTG...
ENST00000323786.10:c.1827+79_1827+87delinsTGCAAGGAA MANE Select	ENSP00000315775.5:n.1827+79_1827+87delins...
ENST00000564415.6:c.*1607+79_*1607+87delinsTGCAAGGAA	ENSP00000456653.2:n.*1607+79_*1607+87deli...
ENST00000674443.1:c.1752+79_1752+87delinsTGCAAGGAA	ENSP00000501405.1:n.1752+79_1752+87delins...
ENST00000323786.9:c.1827+79_1827+87delinsTGCAAGGAA	ENSP00000315775.5:n.1827+79_1827+87delins...
ENST00000393612.8:c.1764+79_1764+87delinsTGCAAGGAA	ENSP00000377236.5:n.1764+79_1764+87delins...
ENST00000482252.5:c.1974+79_1974+87delinsTGCAAGGAA	ENSP00000432802.1:n.1974+79_1974+87delins...
ENST00000526700.5:n.1003+79_1003+87delinsTGCAAGGAA
ENST00000530314.5:n.2506+79_2506+87delinsTGCAAGGAA
ENST00000564315.1:n.287+79_287+87delinsTGCAAGGAA
ENST00000564415.5:c.*1607+79_*1607+87delinsTGCAAGGAA	ENSP00000456653.1:n.*1607+79_*1607+87deli...
NM_001195139.1:c.1764+79_1764+87delinsTGCAAGGAA	NP_001182068.1:n.1764+79_1764+87delinsTGC...
NM_015386.2:c.1827+79_1827+87delinsTGCAAGGAA	NP_056201.2:n.1827+79_1827+87delinsTGCAAG...
XM_011522981.1:c.1401+79_1401+87delinsTGCAAGGAA	XP_011521283.1:n.1401+79_1401+87delinsTGC...
XR_933266.1:n.1773+79_1773+87delinsTGCAAGGAA
XR_933267.1:n.1773+79_1773+87delinsTGCAAGGAA
XM_011522981.3:c.1401+79_1401+87delinsTGCAAGGAA	XP_011521283.1:n.1401+79_1401+87delinsTGC...
XM_024450224.1:c.846+79_846+87delinsTGCAAGGAA	XP_024305992.1:n.846+79_846+87delinsTGCAA...
XR_001751889.1:n.1710+79_1710+87delinsTGCAAGGAA
XR_933266.2:n.1773+79_1773+87delinsTGCAAGGAA
NM_015386.3:c.1827+79_1827+87delinsTGCAAGGAA MANE Select	NP_056201.2:n.1827+79_1827+87delinsTGCAAG...
NM_001195139.2:c.1752+79_1752+87delinsTGCAAGGAA	NP_001182068.2:n.1752+79_1752+87delinsTGC...
NM_001365426.1:c.1401+79_1401+87delinsTGCAAGGAA	NP_001352355.1:n.1401+79_1401+87delinsTGC...
NR_158212.1:n.1786+79_1786+87delinsTGCAAGGAA