Linked Data
ClinVar Variation Id:
242887
ClinVar RCV Id:
RCV000491569
dbSNP Id:
rs1114167294
gnomAD v4:
6-41587454-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41587455del , CM000668.2:g.41587455del | GRCh38 |
| NC_000006.11:g.41555193del , CM000668.1:g.41555193del | GRCh37 |
| NC_000006.10:g.41663171del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704756.1:c.815del | ENSP00000516024.1:p.Leu272ProfsTer? | |
| ENST00000704757.1:n.347del | ||
| ENST00000307972.10:c.815del MANE Select | ENSP00000309823.4:p.Leu272ProfsTer? | |
| ENST00000670130.1:c.476del | ENSP00000499606.1:p.Leu159ProfsTer? | |
| ENST00000307972.8:c.815del | ENSP00000309823.4:p.Leu272ProfsTer? | |
| ENST00000373057.7:c.809del | ENSP00000362148.3:p.Leu270ProfsTer? | |
| ENST00000373060.5:c.815del | ENSP00000362151.1:p.Leu272ProfsTer? | |
| ENST00000373063.7:c.812del | ENSP00000362154.3:p.Leu271ProfsTer? | |
| ENST00000409208.5:c.815del | ENSP00000386958.1:p.Leu272ProfsTer? | |
| NM_001012426.1:c.815del | NP_001012426.1:p.Leu272ProfsTer? | |
| NM_001012427.1:c.809del | NP_001012427.1:p.Leu270ProfsTer? | |
| NM_138457.2:c.812del | NP_612466.1:p.Leu271ProfsTer? | |
| XM_006714991.2:c.812del | XP_006715054.1:p.Leu271ProfsTer? | |
| XM_006714992.2:c.797del | XP_006715055.1:p.Leu266ProfsTer? | |
| XM_011514289.1:c.836del | XP_011512591.1:p.Leu279ProfsTer? | |
| XM_011514290.1:c.830del | XP_011512592.1:p.Leu277ProfsTer? | |
| XM_011514291.1:c.836del | XP_011512593.1:p.Leu279ProfsTer? | |
| XM_011514292.1:c.740del | XP_011512594.1:p.Leu247ProfsTer? | |
| XM_011514293.1:c.518del | XP_011512595.1:p.Leu173ProfsTer? | |
| XR_926052.1:n.1177del | ||
| XR_926053.1:n.1178del | ||
| XM_006714991.3:c.812del | XP_006715054.1:p.Leu271ProfsTer? | |
| XM_011514289.2:c.836del | XP_011512591.1:p.Leu279ProfsTer? | |
| XM_011514290.2:c.830del | XP_011512592.1:p.Leu277ProfsTer? | |
| XM_011514291.3:c.836del | XP_011512593.1:p.Leu279ProfsTer? | |
| XM_011514292.3:c.740del | XP_011512594.1:p.Leu247ProfsTer? | |
| XM_011514293.3:c.518del | XP_011512595.1:p.Leu173ProfsTer? | |
| XM_017010233.1:c.836del | XP_016865722.1:p.Leu279ProfsTer? | |
| XM_017010234.2:c.836del | XP_016865723.1:p.Leu279ProfsTer? | |
| XM_024446319.1:c.815del | XP_024302087.1:p.Leu272ProfsTer? | |
| XR_926052.3:n.1175del | ||
| XR_926053.2:n.1175del | ||
| NM_001012427.2:c.809del | NP_001012427.1:p.Leu270ProfsTer? | |
| NM_138457.3:c.812del | NP_612466.1:p.Leu271ProfsTer? | |
| NM_001012426.2:c.815del MANE Select | NP_001012426.1:p.Leu272ProfsTer? |