ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082512_43082513del , CM000679.2:g.43082512_43082513del | GRCh38 |
| NC_000017.10:g.41234529_41234530del , CM000679.1:g.41234529_41234530del | GRCh37 |
| NC_000017.9:g.38488055_38488056del | NCBI36 |
| NG_005905.2:g.135474_135475del , LRG_292:g.135474_135475del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4251_4252del | ENSP00000417241.2:p.Leu1418ArgfsTer9 | |
| ENST00000470026.6:c.4251_4252del | ENSP00000419274.2:p.Leu1418ArgfsTer9 | |
| ENST00000473961.6:c.4125_4126del | ENSP00000420201.2:p.Leu1376ArgfsTer9 | |
| ENST00000476777.6:c.4245_4246del | ENSP00000417554.2:p.Leu1416ArgfsTer9 | |
| ENST00000477152.6:c.4173_4174del | ENSP00000419988.2:p.Leu1392ArgfsTer9 | |
| ENST00000478531.6:c.939_940del | ENSP00000420412.2:p.Leu314ArgfsTer9 | |
| ENST00000489037.2:c.4173_4174del | ENSP00000420781.2:p.Leu1392ArgfsTer9 | |
| ENST00000493919.6:c.801_802del | ENSP00000418819.2:p.Leu268ArgfsTer9 | |
| ENST00000494123.6:c.4251_4252del | ENSP00000419103.2:p.Leu1418ArgfsTer9 | |
| ENST00000497488.2:c.3363_3364del | ENSP00000418986.2:p.Leu1122ArgfsTer9 | |
| ENST00000618469.2:c.4251_4252del | ENSP00000478114.2:p.Leu1418ArgfsTer9 | |
| ENST00000634433.2:c.4128_4129del | ENSP00000489431.2:p.Leu1377ArgfsTer9 | |
| ENST00000644379.2:c.4251_4252del | ENSP00000496570.2:p.Leu1418ArgfsTer9 | |
| ENST00000644555.2:c.801_802del | ENSP00000494614.2:p.Leu268ArgfsTer9 | |
| ENST00000652672.2:c.4110_4111del | ENSP00000498906.2:p.Leu1371ArgfsTer9 | |
| ENST00000484087.6:c.816_817del | ENSP00000419481.2:p.Leu273ArgfsTer9 | |
| ENST00000700182.1:c.861_862del | ENSP00000514849.1:p.Leu288ArgfsTer9 | |
| ENST00000357654.9:c.4251_4252del MANE Select | ENSP00000350283.3:p.Leu1418ArgfsTer9 | |
| ENST00000471181.7:c.4251_4252del | ENSP00000418960.2:p.Leu1418ArgfsTer9 | |
| ENST00000644379.1:c.572_573del | ||
| ENST00000352993.7:c.825_826del | ENSP00000312236.5:p.Leu276ArgfsTer9 | |
| ENST00000357654.7:c.4251_4252del | ENSP00000350283.3:p.Leu1418ArgfsTer9 | |
| ENST00000461221.5:c.*4034_*4035del | ENSP00000418548.1:n.*4034_*4035del | |
| ENST00000461574.1:c.545_546del | ||
| ENST00000468300.5:c.942_943del | ENSP00000417148.1:p.Leu315ArgfsTer9 | |
| ENST00000471181.6:c.4251_4252del | ENSP00000418960.2:p.Leu1418ArgfsTer9 | |
| ENST00000478531.5:c.939_940del | ENSP00000420412.1:p.Leu314ArgfsTer9 | |
| ENST00000484087.5:c.564_565del | ENSP00000419481.1:p.Leu189ArgfsTer9 | |
| ENST00000487825.5:c.567_568del | ENSP00000418212.1:p.Leu190ArgfsTer9 | |
| ENST00000491747.6:c.942_943del | ENSP00000420705.2:p.Leu315ArgfsTer9 | |
| ENST00000493795.5:c.4110_4111del | ENSP00000418775.1:p.Leu1371ArgfsTer9 | |
| ENST00000493919.5:c.801_802del | ENSP00000418819.1:p.Leu268ArgfsTer9 | |
| ENST00000586385.5:c.5-18559_5-18558del | ENSP00000465818.1:n.5-18559_5-18558del | |
| ENST00000591534.5:c.-43-7989_-43-7988del | ENSP00000467329.1:n.-43-7989_-43-7988del | |
| ENST00000591849.5:c.-98-32320_-98-32319del | ENSP00000465347.1:n.-98-32320_-98-32319del | |
| ENST00000621897.1:n.145_146del | ||
| NM_007294.3:c.4251_4252del , LRG_292t1:c.4251_4252del | NP_009225.1:p.Leu1418ArgfsTer9 | |
| NM_007297.3:c.4110_4111del | NP_009228.2:p.Leu1371ArgfsTer9 | |
| NM_007298.3:c.942_943del | NP_009229.2:p.Leu315ArgfsTer9 | |
| NM_007299.3:c.942_943del | NP_009230.2:p.Leu315ArgfsTer9 | |
| NM_007300.3:c.4251_4252del | NP_009231.2:p.Leu1418ArgfsTer9 | |
| NR_027676.1:n.4387_4388del | ||
| NM_007294.4:c.4251_4252del MANE Select | NP_009225.1:p.Leu1418ArgfsTer9 | |
| NM_007297.4:c.4110_4111del | NP_009228.2:p.Leu1371ArgfsTer9 | |
| NM_007299.4:c.942_943del | NP_009230.2:p.Leu315ArgfsTer9 | |
| NM_007300.4:c.4251_4252del | NP_009231.2:p.Leu1418ArgfsTer9 | |
| NR_027676.2:n.4428_4429del |