Canonical Allele Identifier: CA2789195172

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99713802_99713813del , CM000672.2:g.99713802_99713813del GRCh38
NC_000010.10:g.101473559_101473570del , CM000672.1:g.101473559_101473570del GRCh37
NC_000010.9:g.101463549_101463560del NCBI36
NG_008986.1:g.23854_23865del , LRG_406:g.23854_23865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000016171.6:c.*774_*785del (COX15) MANE Select ENSP00000016171.6:n.*774_*785del
ENST00000649102.1:c.*460+2535_*460+2546del ENSP00000497114.1:n.*460+2535_*460+2546del
ENST00000016171.5:c.*774_*785del (COX15) ENSP00000016171.5:n.*774_*785del
ENST00000370483.9:c.1102-334_1102-323del (COX15) ENSP00000359514.5:n.1102-334_1102-323del
ENST00000493385.5:n.117-9116_117-9105del (CUTC)
NM_004376.5:c.1102-334_1102-323del , LRG_406t2:c.1102-334_1102-323del (COX15) NP_004367.2:n.1102-334_1102-323del
NM_078470.4:c.*774_*785del , LRG_406t1:c.*774_*785del (COX15) NP_510870.1:n.*774_*785del
XM_005269539.3:c.1101+2535_1101+2546del (COX15) XP_005269596.1:n.1101+2535_1101+2546del
XM_006717633.2:c.*955_*966del (COX15) XP_006717696.1:n.*955_*966del
XM_006717634.2:c.*49+2535_*49+2546del (COX15) XP_006717697.1:n.*49+2535_*49+2546del
XM_011539298.1:c.*50-334_*50-323del (COX15) XP_011537600.1:n.*50-334_*50-323del
NM_001320974.1:c.1101+2535_1101+2546del (COX15) NP_001307903.1:n.1101+2535_1101+2546del
NM_001320975.1:c.*955_*966del (COX15) NP_001307904.1:n.*955_*966del
NM_001320976.1:c.*774_*785del (COX15) NP_001307905.1:n.*774_*785del
NM_004376.6:c.1102-334_1102-323del (COX15) NP_004367.2:n.1102-334_1102-323del
NM_078470.5:c.*774_*785del (COX15) NP_510870.1:n.*774_*785del
XM_006717634.3:c.*49+2535_*49+2546del (COX15) XP_006717697.1:n.*49+2535_*49+2546del
XM_011539298.2:c.*50-334_*50-323del (COX15) XP_011537600.1:n.*50-334_*50-323del
NM_001320974.2:c.1101+2535_1101+2546del (COX15) NP_001307903.1:n.1101+2535_1101+2546del
NM_001320975.2:c.*955_*966del (COX15) NP_001307904.1:n.*955_*966del
NM_001320976.2:c.*774_*785del (COX15) NP_001307905.1:n.*774_*785del
NM_001372024.1:c.1253_*4del (COX15) NP_001358953.1:n.[c.1253_*4del;Tyr418Ter]
NM_001372025.1:c.*774_*785del (COX15) NP_001358954.1:n.*774_*785del
NM_001372026.1:c.*774_*785del (COX15) NP_001358955.1:n.*774_*785del
NM_001372027.1:c.*878_*889del (COX15) NP_001358956.1:n.*878_*889del
NM_001372028.1:c.*201_*212del (COX15) NP_001358957.1:n.*201_*212del
NM_004376.7:c.1102-334_1102-323del (COX15) NP_004367.2:n.1102-334_1102-323del
NM_078470.6:c.*774_*785del (COX15) MANE Select NP_510870.1:n.*774_*785del
NR_164009.1:n.1847_1858del (COX15)