Canonical Allele Identifier: CA2506317394

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076967_14076979del , CM000679.2:g.14076967_14076979del	GRCh38
NC_000017.10:g.13980284_13980296del , CM000679.1:g.13980284_13980296del	GRCh37
NC_000017.9:g.13921009_13921021del	NCBI36
NG_008034.1:g.12566_12578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.410_422del MANE Select	ENSP00000261643.3:p.Thr137SerfsTer6
ENST00000664217.1:c.410_422del	ENSP00000499396.1:p.Thr137SerfsTer6
ENST00000670279.1:c.410_422del	ENSP00000499450.1:p.Thr137SerfsTer6
ENST00000261643.7:c.410_422del	ENSP00000261643.3:p.Thr137SerfsTer6
ENST00000429152.6:c.410_422del	ENSP00000397750.2:p.Thr137SerfsTer6
ENST00000580561.1:c.177+2511_177+2523del	ENSP00000462190.1:n.177+2511_177+2523del
ENST00000581931.5:c.410_422del	ENSP00000462512.1:p.Thr137SerfsTer6
NM_001303.3:c.410_422del	NP_001294.2:p.Thr137SerfsTer6
XM_005256458.1:c.410_422del	XP_005256515.1:p.Thr137SerfsTer6
XM_011523657.1:c.410_422del	XP_011521959.1:p.Thr137SerfsTer6
XM_011523658.1:c.-42_-30del	XP_011521960.1:n.-42_-30del
XR_933974.1:n.513_525del
XR_933975.1:n.513_525del
NM_001303.4:c.410_422del MANE Select	NP_001294.2:p.Thr137SerfsTer6