Linked Data
ClinVar Variation Id:
217797
ClinVar RCV Id:
RCV000201845
dbSNP Id:
rs863225257
PubMed:
PMID:25125236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89280331_89280332del , CM000678.2:g.89280331_89280332del | GRCh38 |
| NC_000016.9:g.89346739_89346740del , CM000678.1:g.89346739_89346740del | GRCh37 |
| NC_000016.8:g.87874240_87874241del | NCBI36 |
| NG_032003.1:g.215230_215231del | |
| NG_032003.2:g.215230_215231del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301030.10:c.6210_6211del MANE Select | ENSP00000301030.4:p.Lys2070AsnfsTer? | |
| ENST00000330736.10:c.*6013_*6014del | ENSP00000330815.5:n.*6013_*6014del | |
| ENST00000378330.7:c.6210_6211del | ENSP00000367581.2:p.Lys2070AsnfsTer? | |
| ENST00000642600.1:c.6210_6211del | ENSP00000495226.1:p.Lys2070AsnfsTer? | |
| ENST00000644285.1:c.745-5141_745-5140del | ENSP00000496476.1:n.745-5141_745-5140del | |
| ENST00000301030.8:c.6210_6211del | ENSP00000301030.4:p.Lys2070AsnfsTer? | |
| ENST00000330736.9:c.*6013_*6014del | ENSP00000330815.5:n.*6013_*6014del | |
| ENST00000378330.6:c.6210_6211del | ENSP00000367581.2:p.Lys2070AsnfsTer? | |
| ENST00000562194.1:c.152-5141_152-5140del | ||
| NM_001256182.1:c.6210_6211del | NP_001243111.1:p.Lys2070AsnfsTer? | |
| NM_001256183.1:c.6210_6211del | NP_001243112.1:p.Lys2070AsnfsTer? | |
| NM_013275.5:c.6210_6211del | NP_037407.4:p.Lys2070AsnfsTer? | |
| XM_006721181.1:c.6108_6109del | XP_006721244.1:p.Lys2036AsnfsTer? | |
| XM_006721184.2:c.5913_5914del | XP_006721247.1:p.Lys1971AsnfsTer? | |
| XM_011523051.1:c.6210_6211del | XP_011521353.1:p.Lys2070AsnfsTer? | |
| XM_011523052.1:c.6210_6211del | XP_011521354.1:p.Lys2070AsnfsTer? | |
| XM_011523053.1:c.6210_6211del | XP_011521355.1:p.Lys2070AsnfsTer? | |
| XM_011523054.1:c.6108_6109del | XP_011521356.1:p.Lys2036AsnfsTer? | |
| XM_011523055.1:c.6108_6109del | XP_011521357.1:p.Lys2036AsnfsTer? | |
| XM_011523056.1:c.6081_6082del | XP_011521358.1:p.Lys2027AsnfsTer? | |
| XM_011523057.1:c.6210_6211del | XP_011521359.1:p.Lys2070AsnfsTer? | |
| XM_011523051.3:c.6210_6211del | XP_011521353.1:p.Lys2070AsnfsTer? | |
| XM_011523053.2:c.6210_6211del | XP_011521355.1:p.Lys2070AsnfsTer? | |
| XM_011523054.2:c.6108_6109del | XP_011521356.1:p.Lys2036AsnfsTer? | |
| XM_011523055.2:c.6108_6109del | XP_011521357.1:p.Lys2036AsnfsTer? | |
| XM_011523056.2:c.6081_6082del | XP_011521358.1:p.Lys2027AsnfsTer? | |
| XM_011523057.2:c.6210_6211del | XP_011521359.1:p.Lys2070AsnfsTer? | |
| XM_017023182.2:c.6210_6211del | XP_016878671.1:p.Lys2070AsnfsTer? | |
| XM_017023183.1:c.6210_6211del | XP_016878672.1:p.Lys2070AsnfsTer? | |
| XM_017023184.1:c.6210_6211del | XP_016878673.1:p.Lys2070AsnfsTer? | |
| XM_017023185.1:c.6210_6211del | XP_016878674.1:p.Lys2070AsnfsTer? | |
| XM_017023186.1:c.6210_6211del | XP_016878675.1:p.Lys2070AsnfsTer? | |
| XM_017023187.1:c.6210_6211del | XP_016878676.1:p.Lys2070AsnfsTer? | |
| XM_024450244.1:c.6108_6109del | XP_024306012.1:p.Lys2036AsnfsTer? | |
| NM_013275.6:c.6210_6211del MANE Select | NP_037407.4:p.Lys2070AsnfsTer? | |
| NM_001256182.2:c.6210_6211del | NP_001243111.1:p.Lys2070AsnfsTer? | |
| NM_001256183.2:c.6210_6211del | NP_001243112.1:p.Lys2070AsnfsTer? |