Linked Data
ClinVar Variation Id:
6108
dbSNP Id:
rs398122797
ExAC:
5:52394458 CTT / C
gnomAD v2:
5-52394458-CTT-C
gnomAD v3:
5-53098628-CTT-C
gnomAD v4:
5-53098628-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53098630_53098631del , CM000667.2:g.53098630_53098631del | GRCh38 |
| NC_000005.9:g.52394460_52394461del , CM000667.1:g.52394460_52394461del | GRCh37 |
| NC_000005.8:g.52430217_52430218del | NCBI36 |
| NG_008435.2:g.16139_16140del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396954.8:c.539_540del MANE Select | ENSP00000380157.3:p.Lys180ArgfsTer? | |
| ENST00000450852.8:c.*459_*460del MANE Plus Clinical | ENSP00000411022.3:n.*459_*460del | |
| ENST00000361377.8:c.*308_*309del | ENSP00000355160.4:n.*308_*309del | |
| ENST00000396954.7:c.539_540del | ENSP00000380157.3:p.Lys180ArgfsTer? | |
| ENST00000450852.7:c.*459_*460del | ENSP00000411022.3:n.*459_*460del | |
| ENST00000502402.5:n.2286_2287del | ||
| ENST00000508922.5:c.*379_*380del | ENSP00000426274.1:n.*379_*380del | |
| ENST00000510818.6:c.*412_*413del | ENSP00000424267.2:n.*412_*413del | |
| ENST00000582677.5:c.*180_*181del | ENSP00000462870.1:n.*180_*181del | |
| ENST00000584946.5:c.*331_*332del | ENSP00000464663.1:n.*331_*332del | |
| NM_004531.4:c.539_540del | NP_004522.1:p.Lys180ArgfsTer? | |
| NM_176806.3:c.*459_*460del | NP_789776.1:n.*459_*460del | |
| NM_004531.5:c.539_540del MANE Select | NP_004522.1:p.Lys180ArgfsTer? | |
| NM_176806.4:c.*459_*460del MANE Plus Clinical | NP_789776.1:n.*459_*460del |