Canonical Allele Identifier: CA8740564

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73206753dup , CM000679.2:g.73206753dup	GRCh38
NC_000017.10:g.71202892dup , CM000679.1:g.71202892dup	GRCh37
NC_000017.9:g.68714487dup	NCBI36
NG_008971.1:g.18720dup

Transcript Alleles

HGVS	Amino-acid Change
NM_018714.3:c.2665dup MANE Select	NP_061184.1:p.Arg889ProfsTer12
ENST00000299886.9:c.2665dup MANE Select	ENSP00000299886.4:p.Arg889ProfsTer12
NM_018714.2:c.2665dup	NP_061184.1:p.Arg889ProfsTer12
ENST00000299886.8:c.2665dup	ENSP00000299886.4:p.Arg889ProfsTer12
ENST00000438720.7:c.2663dup
ENST00000577238.1:n.371dup
ENST00000580271.5:n.265dup
ENST00000582512.5:c.221dup
ENST00000582672.1:c.150dup
ENST00000582973.1:c.13dup	ENSP00000462709.1:p.Arg5ProfsTer12
ENST00000618996.4:c.2665dup	ENSP00000479450.1:p.Arg889ProfsTer12