Canonical Allele Identifier: CA2789195167

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99713792_99713795del , CM000672.2:g.99713792_99713795del GRCh38
NC_000010.10:g.101473549_101473552del , CM000672.1:g.101473549_101473552del GRCh37
NC_000010.9:g.101463539_101463542del NCBI36
NG_008986.1:g.23872_23875del , LRG_406:g.23872_23875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000016171.6:c.*792_*795del (COX15) MANE Select ENSP00000016171.6:n.*792_*795del
ENST00000649102.1:c.*460+2553_*460+2556del ENSP00000497114.1:n.*460+2553_*460+2556del
ENST00000016171.5:c.*792_*795del (COX15) ENSP00000016171.5:n.*792_*795del
ENST00000370483.9:c.1102-316_1102-313del (COX15) ENSP00000359514.5:n.1102-316_1102-313del
ENST00000493385.5:n.117-9126_117-9123del (CUTC)
NM_004376.5:c.1102-316_1102-313del , LRG_406t2:c.1102-316_1102-313del (COX15) NP_004367.2:n.1102-316_1102-313del
NM_078470.4:c.*792_*795del , LRG_406t1:c.*792_*795del (COX15) NP_510870.1:n.*792_*795del
XM_005269539.3:c.1101+2553_1101+2556del (COX15) XP_005269596.1:n.1101+2553_1101+2556del
XM_006717633.2:c.*973_*976del (COX15) XP_006717696.1:n.*973_*976del
XM_006717634.2:c.*49+2553_*49+2556del (COX15) XP_006717697.1:n.*49+2553_*49+2556del
XM_011539298.1:c.*50-316_*50-313del (COX15) XP_011537600.1:n.*50-316_*50-313del
NM_001320974.1:c.1101+2553_1101+2556del (COX15) NP_001307903.1:n.1101+2553_1101+2556del
NM_001320975.1:c.*973_*976del (COX15) NP_001307904.1:n.*973_*976del
NM_001320976.1:c.*792_*795del (COX15) NP_001307905.1:n.*792_*795del
NM_004376.6:c.1102-316_1102-313del (COX15) NP_004367.2:n.1102-316_1102-313del
NM_078470.5:c.*792_*795del (COX15) NP_510870.1:n.*792_*795del
XM_006717634.3:c.*49+2553_*49+2556del (COX15) XP_006717697.1:n.*49+2553_*49+2556del
XM_011539298.2:c.*50-316_*50-313del (COX15) XP_011537600.1:n.*50-316_*50-313del
NM_001320974.2:c.1101+2553_1101+2556del (COX15) NP_001307903.1:n.1101+2553_1101+2556del
NM_001320975.2:c.*973_*976del (COX15) NP_001307904.1:n.*973_*976del
NM_001320976.2:c.*792_*795del (COX15) NP_001307905.1:n.*792_*795del
NM_001372024.1:c.*11_*14del (COX15) NP_001358953.1:n.*11_*14del
NM_001372025.1:c.*792_*795del (COX15) NP_001358954.1:n.*792_*795del
NM_001372026.1:c.*792_*795del (COX15) NP_001358955.1:n.*792_*795del
NM_001372027.1:c.*896_*899del (COX15) NP_001358956.1:n.*896_*899del
NM_001372028.1:c.*219_*222del (COX15) NP_001358957.1:n.*219_*222del
NM_004376.7:c.1102-316_1102-313del (COX15) NP_004367.2:n.1102-316_1102-313del
NM_078470.6:c.*792_*795del (COX15) MANE Select NP_510870.1:n.*792_*795del
NR_164009.1:n.1865_1868del (COX15)