Linked Data
ClinVar Variation Id:
417970
ClinVar RCV Id:
RCV000477971
dbSNP Id:
rs1060505056
gnomAD v4:
5-39138664-CAT-C
PubMed:
PMID:25516138
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39138667_39138668del , CM000667.2:g.39138667_39138668del | GRCh38 |
| NC_000005.9:g.39138769_39138770del , CM000667.1:g.39138769_39138770del | GRCh37 |
| NC_000005.8:g.39174526_39174527del | NCBI36 |
| NG_029596.1:g.136992_136993del | |
| NG_029596.2:g.136992_136993del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351578.12:c.1385_1386del | ENSP00000316460.7:p.Tyr462Ter | |
| ENST00000512982.4:c.1385_1386del MANE Select | ENSP00000425845.3:p.Tyr462Ter | |
| ENST00000644817.1:n.1365_1366del | ||
| ENST00000646045.2:c.1415_1416del | ENSP00000493623.1:p.Tyr472Ter | |
| ENST00000351578.10:c.1385_1386del | ENSP00000316460.7:p.Tyr462Ter | |
| ENST00000505428.5:c.1385_1386del | ENSP00000427114.1:p.Tyr462Ter | |
| ENST00000512982.2:c.1415_1416del | ENSP00000425845.2:p.Tyr472Ter | |
| ENST00000515010.5:c.1385_1386del | ENSP00000426346.1:p.Tyr462Ter | |
| NM_001243093.1:c.1415_1416del | NP_001230022.1:p.Tyr472Ter | |
| NM_001465.4:c.1385_1386del | NP_001456.3:p.Tyr462Ter | |
| NM_199335.3:c.1385_1386del | NP_955367.1:p.Tyr462Ter | |
| XM_006714464.2:c.1385_1386del | XP_006714527.1:p.Tyr462Ter | |
| XM_006714465.2:c.1385_1386del | XP_006714528.1:p.Tyr462Ter | |
| XM_006714466.2:c.1385_1386del | XP_006714529.1:p.Tyr462Ter | |
| XM_011514008.1:c.1415_1416del | XP_011512310.1:p.Tyr472Ter | |
| XM_011514009.1:c.1385_1386del | XP_011512311.1:p.Tyr462Ter | |
| XM_011514010.1:c.1385_1386del | XP_011512312.1:p.Tyr462Ter | |
| XM_011514011.1:c.1415_1416del | XP_011512313.1:p.Tyr472Ter | |
| XM_011514012.1:c.1415_1416del | XP_011512314.1:p.Tyr472Ter | |
| XM_011514013.1:c.1415_1416del | XP_011512315.1:p.Tyr472Ter | |
| NM_001349333.1:c.1385_1386del | NP_001336262.1:p.Tyr462Ter | |
| NM_001465.5:c.1385_1386del | NP_001456.3:p.Tyr462Ter | |
| NM_018594.2:c.1415_1416del | NP_061064.2:p.Tyr472Ter | |
| NM_199335.4:c.1385_1386del | NP_955367.1:p.Tyr462Ter | |
| XM_006714464.3:c.1385_1386del | XP_006714527.1:p.Tyr462Ter | |
| XM_011514008.3:c.1415_1416del | XP_011512310.1:p.Tyr472Ter | |
| XM_011514011.2:c.1415_1416del | XP_011512313.1:p.Tyr472Ter | |
| XM_011514012.3:c.1415_1416del | XP_011512314.1:p.Tyr472Ter | |
| XM_011514013.3:c.1415_1416del | XP_011512315.1:p.Tyr472Ter | |
| NM_001243093.2:c.1415_1416del | NP_001230022.1:p.Tyr472Ter | |
| NM_001349333.2:c.1385_1386del | NP_001336262.1:p.Tyr462Ter | |
| NM_001465.6:c.1385_1386del MANE Select | NP_001456.3:p.Tyr462Ter | |
| NM_199335.5:c.1385_1386del | NP_955367.1:p.Tyr462Ter |