Linked Data
ClinVar Variation Id:
298386
dbSNP Id:
rs11405417
gnomAD v2:
10-101470858-C-CAA
gnomAD v3:
10-99711101-C-CAA
gnomAD v4:
10-99711101-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99711108_99711109dup , CM000672.2:g.99711108_99711109dup | GRCh38 |
| NC_000010.10:g.101470865_101470866dup , CM000672.1:g.101470865_101470866dup | GRCh37 |
| NC_000010.9:g.101460855_101460856dup | NCBI36 |
| NG_008986.1:g.26564_26565dup , LRG_406:g.26564_26565dup | |
| NG_053079.1:g.56732_56733dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*3484_*3485dup (COX15) MANE Select | ENSP00000016171.6:n.*3484_*3485dup | |
| ENST00000370489.5:c.*6425_*6426dup (ENTPD7) MANE Select | ENSP00000359520.4:n.*6425_*6426dup | |
| ENST00000649102.1:c.*460+5245_*460+5246dup | ENSP00000497114.1:n.*460+5245_*460+5246dup | |
| ENST00000493385.5:n.116+8435_116+8436dup (CUTC) | ||
| NM_004376.5:c.*2311_*2312dup , LRG_406t2:c.*2311_*2312dup (COX15) | NP_004367.2:n.*2311_*2312dup | |
| NM_020354.3:c.*6425_*6426dup (ENTPD7) | NP_065087.1:n.*6425_*6426dup | |
| NM_078470.4:c.*3484_*3485dup , LRG_406t1:c.*3484_*3485dup (COX15) | NP_510870.1:n.*3484_*3485dup | |
| XM_005269539.3:c.1101+5245_1101+5246dup (COX15) | XP_005269596.1:n.1101+5245_1101+5246dup | |
| XM_006717634.2:c.*49+5245_*49+5246dup (COX15) | XP_006717697.1:n.*49+5245_*49+5246dup | |
| NM_001320974.1:c.1101+5245_1101+5246dup (COX15) | NP_001307903.1:n.1101+5245_1101+5246dup | |
| NM_001320975.1:c.*3665_*3666dup (COX15) | NP_001307904.1:n.*3665_*3666dup | |
| NM_001320976.1:c.*3484_*3485dup (COX15) | NP_001307905.1:n.*3484_*3485dup | |
| NM_001349962.1:c.*6425_*6426dup (ENTPD7) | NP_001336891.1:n.*6425_*6426dup | |
| NM_001349963.1:c.*6425_*6426dup (ENTPD7) | NP_001336892.1:n.*6425_*6426dup | |
| NM_004376.6:c.*2311_*2312dup (COX15) | NP_004367.2:n.*2311_*2312dup | |
| NM_020354.4:c.*6425_*6426dup (ENTPD7) | NP_065087.1:n.*6425_*6426dup | |
| NM_078470.5:c.*3484_*3485dup (COX15) | NP_510870.1:n.*3484_*3485dup | |
| XM_006717634.3:c.*49+5245_*49+5246dup (COX15) | XP_006717697.1:n.*49+5245_*49+5246dup | |
| NM_020354.5:c.*6425_*6426dup (ENTPD7) MANE Select | NP_065087.1:n.*6425_*6426dup | |
| NM_001320974.2:c.1101+5245_1101+5246dup (COX15) | NP_001307903.1:n.1101+5245_1101+5246dup | |
| NM_001320975.2:c.*3665_*3666dup (COX15) | NP_001307904.1:n.*3665_*3666dup | |
| NM_001320976.2:c.*3484_*3485dup (COX15) | NP_001307905.1:n.*3484_*3485dup | |
| NM_001349962.2:c.*6425_*6426dup (ENTPD7) | NP_001336891.1:n.*6425_*6426dup | |
| NM_001372024.1:c.*2703_*2704dup (COX15) | NP_001358953.1:n.*2703_*2704dup | |
| NM_001372025.1:c.*3484_*3485dup (COX15) | NP_001358954.1:n.*3484_*3485dup | |
| NM_001372026.1:c.*3484_*3485dup (COX15) | NP_001358955.1:n.*3484_*3485dup | |
| NM_001372027.1:c.*3588_*3589dup (COX15) | NP_001358956.1:n.*3588_*3589dup | |
| NM_001372028.1:c.*2911_*2912dup (COX15) | NP_001358957.1:n.*2911_*2912dup | |
| NM_004376.7:c.*2311_*2312dup (COX15) | NP_004367.2:n.*2311_*2312dup | |
| NM_078470.6:c.*3484_*3485dup (COX15) MANE Select | NP_510870.1:n.*3484_*3485dup | |
| NR_164009.1:n.4557_4558dup (COX15) | ||
| NM_001349963.2:c.*6425_*6426dup (ENTPD7) | NP_001336892.1:n.*6425_*6426dup |