Canonical Allele Identifier: CA5642035

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs760647511
• ExAC: 10:101473205 AT / A
• gnomAD v2: 10-101473205-AT-A
• gnomAD v4: 10-99713448-AT-A
• MyVariant Identifiers: chr10:g.101473206del (hg19) ; chr10:g.99713449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713452del , CM000672.2:g.99713452del	GRCh38
NC_000010.10:g.101473209del , CM000672.1:g.101473209del	GRCh37
NC_000010.9:g.101463199del	NCBI36
NG_008986.1:g.24218del , LRG_406:g.24218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1138del (COX15) MANE Select	ENSP00000016171.6:n.*1138del
ENST00000649102.1:c.*460+2899del	ENSP00000497114.1:n.*460+2899del
ENST00000370483.9:c.1132del (COX15)	ENSP00000359514.5:p.Ile378SerfsTer30
ENST00000493385.5:n.117-9466del (CUTC)
NM_004376.5:c.1132del , LRG_406t2:c.1132del (COX15)	NP_004367.2:p.Ile378SerfsTer30
NM_078470.4:c.*1138del , LRG_406t1:c.*1138del (COX15)	NP_510870.1:n.*1138del
XM_005269539.3:c.1101+2899del (COX15)	XP_005269596.1:n.1101+2899del
XM_006717633.2:c.*1319del (COX15)	XP_006717696.1:n.*1319del
XM_006717634.2:c.*49+2899del (COX15)	XP_006717697.1:n.*49+2899del
XM_011539298.1:c.*80del (COX15)	XP_011537600.1:n.*80del
NM_001320974.1:c.1101+2899del (COX15)	NP_001307903.1:n.1101+2899del
NM_001320975.1:c.*1319del (COX15)	NP_001307904.1:n.*1319del
NM_001320976.1:c.*1138del (COX15)	NP_001307905.1:n.*1138del
NM_004376.6:c.1132del (COX15)	NP_004367.2:p.Ile378SerfsTer30
NM_078470.5:c.*1138del (COX15)	NP_510870.1:n.*1138del
XM_006717634.3:c.*49+2899del (COX15)	XP_006717697.1:n.*49+2899del
XM_011539298.2:c.*80del (COX15)	XP_011537600.1:n.*80del
NM_001320974.2:c.1101+2899del (COX15)	NP_001307903.1:n.1101+2899del
NM_001320975.2:c.*1319del (COX15)	NP_001307904.1:n.*1319del
NM_001320976.2:c.*1138del (COX15)	NP_001307905.1:n.*1138del
NM_001372024.1:c.*357del (COX15)	NP_001358953.1:n.*357del
NM_001372025.1:c.*1138del (COX15)	NP_001358954.1:n.*1138del
NM_001372026.1:c.*1138del (COX15)	NP_001358955.1:n.*1138del
NM_001372027.1:c.*1242del (COX15)	NP_001358956.1:n.*1242del
NM_001372028.1:c.*565del (COX15)	NP_001358957.1:n.*565del
NM_004376.7:c.1132del (COX15)	NP_004367.2:p.Ile378SerfsTer30
NM_078470.6:c.*1138del (COX15) MANE Select	NP_510870.1:n.*1138del
NR_164009.1:n.2211del (COX15)