Canonical Allele Identifier: CA670625304

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs1303694614
• gnomAD v3: 10-99713420-G-GT
• gnomAD v4: 10-99713420-G-GT
• MyVariant Identifiers: chr10:g.101473177_101473178insT (hg19) ; chr10:g.99713420_99713421insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713423dup , CM000672.2:g.99713423dup	GRCh38
NC_000010.10:g.101473180dup , CM000672.1:g.101473180dup	GRCh37
NC_000010.9:g.101463170dup	NCBI36
NG_008986.1:g.24246dup , LRG_406:g.24246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1166dup (COX15) MANE Select	ENSP00000016171.6:n.*1166dup
ENST00000649102.1:c.*460+2927dup	ENSP00000497114.1:n.*460+2927dup
ENST00000370483.9:c.1160dup (COX15)	ENSP00000359514.5:p.Asn387LysfsTer5
ENST00000493385.5:n.117-9495dup (CUTC)
NM_004376.5:c.1160dup , LRG_406t2:c.1160dup (COX15)	NP_004367.2:p.Asn387LysfsTer5
NM_078470.4:c.*1166dup , LRG_406t1:c.*1166dup (COX15)	NP_510870.1:n.*1166dup
XM_005269539.3:c.1101+2927dup (COX15)	XP_005269596.1:n.1101+2927dup
XM_006717633.2:c.*1347dup (COX15)	XP_006717696.1:n.*1347dup
XM_006717634.2:c.*49+2927dup (COX15)	XP_006717697.1:n.*49+2927dup
XM_011539298.1:c.*108dup (COX15)	XP_011537600.1:n.*108dup
NM_001320974.1:c.1101+2927dup (COX15)	NP_001307903.1:n.1101+2927dup
NM_001320975.1:c.*1347dup (COX15)	NP_001307904.1:n.*1347dup
NM_001320976.1:c.*1166dup (COX15)	NP_001307905.1:n.*1166dup
NM_004376.6:c.1160dup (COX15)	NP_004367.2:p.Asn387LysfsTer5
NM_078470.5:c.*1166dup (COX15)	NP_510870.1:n.*1166dup
XM_006717634.3:c.*49+2927dup (COX15)	XP_006717697.1:n.*49+2927dup
XM_011539298.2:c.*108dup (COX15)	XP_011537600.1:n.*108dup
NM_001320974.2:c.1101+2927dup (COX15)	NP_001307903.1:n.1101+2927dup
NM_001320975.2:c.*1347dup (COX15)	NP_001307904.1:n.*1347dup
NM_001320976.2:c.*1166dup (COX15)	NP_001307905.1:n.*1166dup
NM_001372024.1:c.*385dup (COX15)	NP_001358953.1:n.*385dup
NM_001372025.1:c.*1166dup (COX15)	NP_001358954.1:n.*1166dup
NM_001372026.1:c.*1166dup (COX15)	NP_001358955.1:n.*1166dup
NM_001372027.1:c.*1270dup (COX15)	NP_001358956.1:n.*1270dup
NM_001372028.1:c.*593dup (COX15)	NP_001358957.1:n.*593dup
NM_004376.7:c.1160dup (COX15)	NP_004367.2:p.Asn387LysfsTer5
NM_078470.6:c.*1166dup (COX15) MANE Select	NP_510870.1:n.*1166dup
NR_164009.1:n.2239dup (COX15)