Linked Data
dbSNP Id:
rs771667402
ExAC:
1:160283734 AAG / A
gnomAD v2:
1-160283734-AAG-A
gnomAD v4:
1-160313944-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160313951_160313952del , CM000663.2:g.160313951_160313952del | GRCh38 |
| NC_000001.10:g.160283741_160283742del , CM000663.1:g.160283741_160283742del | GRCh37 |
| NC_000001.9:g.158550365_158550366del | NCBI36 |
| NG_050927.1:g.34619_34620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.514+44_514+45del (COPA) | ||
| ENST00000696203.1:n.3326+44_3326+45del (COPA) | ||
| ENST00000696204.1:n.3533+44_3533+45del (COPA) | ||
| ENST00000696206.1:n.613+44_613+45del (COPA) | ||
| ENST00000696207.1:n.839+44_839+45del (COPA) | ||
| ENST00000696208.1:n.945+44_945+45del (COPA) | ||
| ENST00000696209.1:n.1238+44_1238+45del (COPA) | ||
| ENST00000696210.1:n.1238+44_1238+45del (COPA) | ||
| ENST00000696211.1:n.1238+44_1238+45del (COPA) | ||
| ENST00000696212.1:n.3526+44_3526+45del (COPA) | ||
| ENST00000696213.1:n.1969+44_1969+45del (COPA) | ||
| ENST00000696214.1:n.3552+44_3552+45del (COPA) | ||
| ENST00000696215.1:n.945+44_945+45del (COPA) | ||
| ENST00000241704.8:c.842+44_842+45del (COPA) MANE Select | ENSP00000241704.7:n.842+44_842+45del | |
| ENST00000647683.1:c.842+44_842+45del (COPA) | ENSP00000497495.1:n.842+44_842+45del | |
| ENST00000647693.1:n.1926+44_1926+45del (COPA) | ||
| ENST00000647799.1:c.*279+44_*279+45del (COPA) | ENSP00000497970.1:n.*279+44_*279+45del | |
| ENST00000647899.1:c.361+44_361+45del (COPA) | ||
| ENST00000648501.1:c.316-779_316-778del (COPA) | ||
| ENST00000648805.1:c.842+44_842+45del (COPA) | ENSP00000497433.1:n.842+44_842+45del | |
| ENST00000649231.1:c.842+44_842+45del (COPA) | ENSP00000498061.1:n.842+44_842+45del | |
| ENST00000649676.1:c.389+44_389+45del (COPA) | ENSP00000497257.1:n.389+44_389+45del | |
| ENST00000649787.1:c.842+44_842+45del (COPA) | ENSP00000497231.1:n.842+44_842+45del | |
| ENST00000649963.1:c.*531+44_*531+45del (COPA) | ENSP00000498129.1:n.*531+44_*531+45del | |
| ENST00000650154.1:c.*279+44_*279+45del (COPA) | ENSP00000497094.1:n.*279+44_*279+45del | |
| ENST00000241704.7:c.842+44_842+45del (COPA) | ENSP00000241704.7:n.842+44_842+45del | |
| ENST00000368069.7:c.842+44_842+45del (COPA) | ENSP00000357048.3:n.842+44_842+45del | |
| NM_001098398.1:c.842+44_842+45del (COPA) | NP_001091868.1:n.842+44_842+45del | |
| NM_004371.3:c.842+44_842+45del (COPA) | NP_004362.2:n.842+44_842+45del | |
| XM_011509584.1:c.-176+27360_-176+27361del (NHLH1) | XP_011507886.1:n.-176+27360_-176+27361del | |
| NM_001098398.2:c.842+44_842+45del (COPA) | NP_001091868.1:n.842+44_842+45del | |
| NM_004371.4:c.842+44_842+45del (COPA) MANE Select | NP_004362.2:n.842+44_842+45del |