Canonical Allele Identifier: CA2808555564

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076971del , CM000679.2:g.14076971del	GRCh38
NC_000017.10:g.13980288del , CM000679.1:g.13980288del	GRCh37
NC_000017.9:g.13921013del	NCBI36
NG_008034.1:g.12570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.414del MANE Select	ENSP00000261643.3:p.Glu139ArgfsTer8
ENST00000664217.1:c.414del	ENSP00000499396.1:p.Glu139ArgfsTer8
ENST00000670279.1:c.414del	ENSP00000499450.1:p.Glu139ArgfsTer8
ENST00000261643.7:c.414del	ENSP00000261643.3:p.Glu139ArgfsTer8
ENST00000429152.6:c.414del	ENSP00000397750.2:p.Glu139ArgfsTer8
ENST00000580561.1:c.177+2515del	ENSP00000462190.1:n.177+2515del
ENST00000581931.5:c.414del	ENSP00000462512.1:p.Glu139ArgfsTer8
NM_001303.3:c.414del	NP_001294.2:p.Glu139ArgfsTer8
XM_005256458.1:c.414del	XP_005256515.1:p.Glu139ArgfsTer8
XM_011523657.1:c.414del	XP_011521959.1:p.Glu139ArgfsTer8
XM_011523658.1:c.-38del	XP_011521960.1:n.-38del
XR_933974.1:n.517del
XR_933975.1:n.517del
NM_001303.4:c.414del MANE Select	NP_001294.2:p.Glu139ArgfsTer8