ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89284131_89284135del , CM000678.2:g.89284131_89284135del | GRCh38 |
| NC_000016.9:g.89350539_89350543del , CM000678.1:g.89350539_89350543del | GRCh37 |
| NC_000016.8:g.87878040_87878044del | NCBI36 |
| NG_032003.1:g.211428_211432del | |
| NG_032003.2:g.211428_211432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301030.10:c.2408_2412del MANE Select | ENSP00000301030.4:p.Lys803ArgfsTer5 | |
| ENST00000330736.10:c.*2211_*2215del | ENSP00000330815.5:n.*2211_*2215del | |
| ENST00000378330.7:c.2408_2412del | ENSP00000367581.2:p.Lys803ArgfsTer5 | |
| ENST00000642443.1:c.2033_2037del | ENSP00000493644.1:p.Lys678ArgfsTer5 | |
| ENST00000642600.1:c.2408_2412del | ENSP00000495226.1:p.Lys803ArgfsTer5 | |
| ENST00000644285.1:c.744+4394_744+4398del | ENSP00000496476.1:n.744+4394_744+4398del | |
| ENST00000301030.8:c.2408_2412del | ENSP00000301030.4:p.Lys803ArgfsTer5 | |
| ENST00000330736.9:c.*2211_*2215del | ENSP00000330815.5:n.*2211_*2215del | |
| ENST00000378330.6:c.2408_2412del | ENSP00000367581.2:p.Lys803ArgfsTer5 | |
| ENST00000562194.1:c.151+4394_151+4398del | ||
| NM_001256182.1:c.2408_2412del | NP_001243111.1:p.Lys803ArgfsTer5 | |
| NM_001256183.1:c.2408_2412del | NP_001243112.1:p.Lys803ArgfsTer5 | |
| NM_013275.5:c.2408_2412del | NP_037407.4:p.Lys803ArgfsTer5 | |
| XM_006721181.1:c.2306_2310del | XP_006721244.1:p.Lys769ArgfsTer5 | |
| XM_006721184.2:c.2111_2115del | XP_006721247.1:p.Lys704ArgfsTer5 | |
| XM_011523051.1:c.2408_2412del | XP_011521353.1:p.Lys803ArgfsTer5 | |
| XM_011523052.1:c.2408_2412del | XP_011521354.1:p.Lys803ArgfsTer5 | |
| XM_011523053.1:c.2408_2412del | XP_011521355.1:p.Lys803ArgfsTer5 | |
| XM_011523054.1:c.2306_2310del | XP_011521356.1:p.Lys769ArgfsTer5 | |
| XM_011523055.1:c.2306_2310del | XP_011521357.1:p.Lys769ArgfsTer5 | |
| XM_011523056.1:c.2279_2283del | XP_011521358.1:p.Lys760ArgfsTer5 | |
| XM_011523057.1:c.2408_2412del | XP_011521359.1:p.Lys803ArgfsTer5 | |
| XM_011523051.3:c.2408_2412del | XP_011521353.1:p.Lys803ArgfsTer5 | |
| XM_011523053.2:c.2408_2412del | XP_011521355.1:p.Lys803ArgfsTer5 | |
| XM_011523054.2:c.2306_2310del | XP_011521356.1:p.Lys769ArgfsTer5 | |
| XM_011523055.2:c.2306_2310del | XP_011521357.1:p.Lys769ArgfsTer5 | |
| XM_011523056.2:c.2279_2283del | XP_011521358.1:p.Lys760ArgfsTer5 | |
| XM_011523057.2:c.2408_2412del | XP_011521359.1:p.Lys803ArgfsTer5 | |
| XM_017023182.2:c.2408_2412del | XP_016878671.1:p.Lys803ArgfsTer5 | |
| XM_017023183.1:c.2408_2412del | XP_016878672.1:p.Lys803ArgfsTer5 | |
| XM_017023184.1:c.2408_2412del | XP_016878673.1:p.Lys803ArgfsTer5 | |
| XM_017023185.1:c.2408_2412del | XP_016878674.1:p.Lys803ArgfsTer5 | |
| XM_017023186.1:c.2408_2412del | XP_016878675.1:p.Lys803ArgfsTer5 | |
| XM_017023187.1:c.2408_2412del | XP_016878676.1:p.Lys803ArgfsTer5 | |
| XM_024450244.1:c.2306_2310del | XP_024306012.1:p.Lys769ArgfsTer5 | |
| NM_013275.6:c.2408_2412del MANE Select | NP_037407.4:p.Lys803ArgfsTer5 | |
| NM_001256182.2:c.2408_2412del | NP_001243111.1:p.Lys803ArgfsTer5 | |
| NM_001256183.2:c.2408_2412del | NP_001243112.1:p.Lys803ArgfsTer5 |