Linked Data
ClinVar Variation Id:
370838
dbSNP Id:
rs1057516806
gnomAD v2:
1-183177066-CACAG-C
gnomAD v4:
1-183207931-CACAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183207935_183207938del , CM000663.2:g.183207935_183207938del | GRCh38 |
| NC_000001.10:g.183177070_183177073del , CM000663.1:g.183177070_183177073del | GRCh37 |
| NC_000001.9:g.181443693_181443696del | NCBI36 |
| NG_007079.2:g.26672_26675del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.134_137del MANE Select | ENSP00000264144.4:p.Arg45LysfsTer? | |
| ENST00000264144.4:c.134_137del | ENSP00000264144.4:p.Arg45LysfsTer? | |
| ENST00000493293.5:c.134_137del | ENSP00000432063.1:p.Arg45LysfsTer? | |
| NM_005562.2:c.134_137del | NP_005553.2:p.Arg45LysfsTer? | |
| NM_018891.2:c.134_137del | NP_061486.2:p.Arg45LysfsTer? | |
| XM_017001273.2:c.134_137del | XP_016856762.1:p.Arg45LysfsTer? | |
| NM_005562.3:c.134_137del MANE Select | NP_005553.2:p.Arg45LysfsTer? | |
| NM_018891.3:c.134_137del | NP_061486.2:p.Arg45LysfsTer? |