Canonical Allele Identifier: CA2582342146

Gene: COX10

Linked Data

• ClinVar Variation Id: 2582413
• ClinVar RCV Id: RCV003333397
• gnomAD v4: 17-14102236-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102238del , CM000679.2:g.14102238del	GRCh38
NC_000017.10:g.14005555del , CM000679.1:g.14005555del	GRCh37
NC_000017.9:g.13946280del	NCBI36
NG_008034.1:g.37837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.620del MANE Select	ENSP00000261643.3:p.Asn207IlefsTer12
ENST00000664217.1:c.620del	ENSP00000499396.1:p.Asn207IlefsTer12
ENST00000670279.1:c.620del	ENSP00000499450.1:p.Asn207IlefsTer12
ENST00000261643.7:c.620del	ENSP00000261643.3:p.Asn207IlefsTer12
ENST00000580561.1:c.*109del	ENSP00000462190.1:n.*109del
ENST00000581931.5:c.499+25182del	ENSP00000462512.1:n.499+25182del
NM_001303.3:c.620del	NP_001294.2:p.Asn207IlefsTer12
XM_005256458.1:c.620del	XP_005256515.1:p.Asn207IlefsTer12
XM_011523657.1:c.620del	XP_011521959.1:p.Asn207IlefsTer12
XM_011523658.1:c.48+25182del	XP_011521960.1:n.48+25182del
XR_933974.1:n.723del
XR_933975.1:n.723del
NM_001303.4:c.620del MANE Select	NP_001294.2:p.Asn207IlefsTer12