Canonical Allele Identifier: CA2636207587

Gene: COX10

Linked Data

• gnomAD v4: 17-14076878-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076880_14076882del , CM000679.2:g.14076880_14076882del	GRCh38
NC_000017.10:g.13980197_13980199del , CM000679.1:g.13980197_13980199del	GRCh37
NC_000017.9:g.13920922_13920924del	NCBI36
NG_008034.1:g.12479_12481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.323_325del MANE Select	ENSP00000261643.3:p.Ser108del
ENST00000664217.1:c.323_325del	ENSP00000499396.1:p.Ser108del
ENST00000670279.1:c.323_325del	ENSP00000499450.1:p.Ser108del
ENST00000261643.7:c.323_325del	ENSP00000261643.3:p.Ser108del
ENST00000429152.6:c.323_325del	ENSP00000397750.2:p.Ser108del
ENST00000580561.1:c.177+2424_177+2426del	ENSP00000462190.1:n.177+2424_177+2426del
ENST00000581931.5:c.323_325del	ENSP00000462512.1:p.Ser108del
NM_001303.3:c.323_325del	NP_001294.2:p.Ser108del
XM_005256458.1:c.323_325del	XP_005256515.1:p.Ser108del
XM_011523657.1:c.323_325del	XP_011521959.1:p.Ser108del
XM_011523658.1:c.-129_-127del	XP_011521960.1:n.-129_-127del
XR_933974.1:n.426_428del
XR_933975.1:n.426_428del
NM_001303.4:c.323_325del MANE Select	NP_001294.2:p.Ser108del