Canonical Allele Identifier: CA2636207584

Gene: COX10

Linked Data

• gnomAD v4: 17-14076754-G-GAAGCCACAACCAGCAAGTAAGACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076761_14076785dup , CM000679.2:g.14076761_14076785dup	GRCh38
NC_000017.10:g.13980078_13980102dup , CM000679.1:g.13980078_13980102dup	GRCh37
NC_000017.9:g.13920803_13920827dup	NCBI36
NG_008034.1:g.12360_12384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.204_228dup MANE Select	ENSP00000261643.3:p.Glu77GlnfsTer17
ENST00000664217.1:c.204_228dup	ENSP00000499396.1:p.Glu77GlnfsTer17
ENST00000670279.1:c.204_228dup	ENSP00000499450.1:p.Glu77GlnfsTer17
ENST00000261643.7:c.204_228dup	ENSP00000261643.3:p.Glu77GlnfsTer17
ENST00000429152.6:c.204_228dup	ENSP00000397750.2:p.Glu77GlnfsTer17
ENST00000580561.1:c.177+2305_177+2329dup	ENSP00000462190.1:n.177+2305_177+2329dup
ENST00000581931.5:c.204_228dup	ENSP00000462512.1:p.Glu77GlnfsTer17
NM_001303.3:c.204_228dup	NP_001294.2:p.Glu77GlnfsTer17
XM_005256458.1:c.204_228dup	XP_005256515.1:p.Glu77GlnfsTer17
XM_011523657.1:c.204_228dup	XP_011521959.1:p.Glu77GlnfsTer17
XM_011523658.1:c.-248_-224dup	XP_011521960.1:n.-248_-224dup
XR_933974.1:n.307_331dup
XR_933975.1:n.307_331dup
NM_001303.4:c.204_228dup MANE Select	NP_001294.2:p.Glu77GlnfsTer17