ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067648_43067652del , CM000679.2:g.43067648_43067652del | GRCh38 |
| NC_000017.10:g.41219665_41219669del , CM000679.1:g.41219665_41219669del | GRCh37 |
| NC_000017.9:g.38473191_38473195del | NCBI36 |
| NG_005905.2:g.150337_150341del , LRG_292:g.150337_150341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5032_5036del | ENSP00000417241.2:p.Leu1678TyrfsTer2 | |
| ENST00000470026.6:c.5035_5039del | ENSP00000419274.2:p.Leu1679TyrfsTer2 | |
| ENST00000473961.6:c.4909_4913del | ENSP00000420201.2:p.Leu1637TyrfsTer2 | |
| ENST00000476777.6:c.5029_5033del | ENSP00000417554.2:p.Leu1677TyrfsTer2 | |
| ENST00000477152.6:c.4957_4961del | ENSP00000419988.2:p.Leu1653TyrfsTer2 | |
| ENST00000478531.6:c.1723_1727del | ENSP00000420412.2:p.Leu575TyrfsTer2 | |
| ENST00000489037.2:c.4957_4961del | ENSP00000420781.2:p.Leu1653TyrfsTer2 | |
| ENST00000493919.6:c.1585_1589del | ENSP00000418819.2:p.Leu529TyrfsTer2 | |
| ENST00000494123.6:c.5035_5039del | ENSP00000419103.2:p.Leu1679TyrfsTer2 | |
| ENST00000497488.2:c.4147_4151del | ENSP00000418986.2:p.Leu1383TyrfsTer2 | |
| ENST00000618469.2:c.5035_5039del | ENSP00000478114.2:p.Leu1679TyrfsTer2 | |
| ENST00000634433.2:c.4912_4916del | ENSP00000489431.2:p.Leu1638TyrfsTer2 | |
| ENST00000644379.2:c.5101_5105del | ENSP00000496570.2:p.Leu1701TyrfsTer2 | |
| ENST00000644555.2:c.1585_1589del | ENSP00000494614.2:p.Leu529TyrfsTer2 | |
| ENST00000652672.2:c.4894_4898del | ENSP00000498906.2:p.Leu1632TyrfsTer2 | |
| ENST00000484087.6:c.1597_1601del | ENSP00000419481.2:p.Leu533TyrfsTer2 | |
| ENST00000357654.9:c.5035_5039del MANE Select | ENSP00000350283.3:p.Leu1679TyrfsTer2 | |
| ENST00000471181.7:c.5098_5102del | ENSP00000418960.2:p.Leu1700TyrfsTer2 | |
| ENST00000644379.1:c.1422_1426del | ||
| ENST00000352993.7:c.1609_1613del | ENSP00000312236.5:p.Leu537TyrfsTer2 | |
| ENST00000357654.7:c.5035_5039del | ENSP00000350283.3:p.Leu1679TyrfsTer2 | |
| ENST00000461221.5:c.*4818_*4822del | ENSP00000418548.1:n.*4818_*4822del | |
| ENST00000468300.5:c.1723_1727del | ENSP00000417148.1:p.Leu575TyrfsTer2 | |
| ENST00000471181.6:c.5098_5102del | ENSP00000418960.2:p.Leu1700TyrfsTer2 | |
| ENST00000472490.1:n.188_192del | ||
| ENST00000478531.5:c.1723_1727del | ENSP00000420412.1:p.Leu575TyrfsTer2 | |
| ENST00000484087.5:c.1348_1352del | ENSP00000419481.1:p.Leu450TyrfsTer2 | |
| ENST00000491747.6:c.1723_1727del | ENSP00000420705.2:p.Leu575TyrfsTer2 | |
| ENST00000493795.5:c.4894_4898del | ENSP00000418775.1:p.Leu1632TyrfsTer2 | |
| ENST00000493919.5:c.1585_1589del | ENSP00000418819.1:p.Leu529TyrfsTer2 | |
| ENST00000586385.5:c.5-3696_5-3692del | ENSP00000465818.1:n.5-3696_5-3692del | |
| ENST00000591534.5:c.508_512del | ENSP00000467329.1:p.Leu170TyrfsTer2 | |
| ENST00000591849.5:c.-98-17457_-98-17453del | ENSP00000465347.1:n.-98-17457_-98-17453del | |
| NM_007294.3:c.5035_5039del , LRG_292t1:c.5035_5039del | NP_009225.1:p.Leu1679TyrfsTer2 | |
| NM_007297.3:c.4894_4898del | NP_009228.2:p.Leu1632TyrfsTer2 | |
| NM_007298.3:c.1723_1727del | NP_009229.2:p.Leu575TyrfsTer2 | |
| NM_007299.3:c.1723_1727del | NP_009230.2:p.Leu575TyrfsTer2 | |
| NM_007300.3:c.5098_5102del | NP_009231.2:p.Leu1700TyrfsTer2 | |
| NR_027676.1:n.5171_5175del | ||
| NM_007294.4:c.5035_5039del MANE Select | NP_009225.1:p.Leu1679TyrfsTer2 | |
| NM_007297.4:c.4894_4898del | NP_009228.2:p.Leu1632TyrfsTer2 | |
| NM_007299.4:c.1723_1727del | NP_009230.2:p.Leu575TyrfsTer2 | |
| NM_007300.4:c.5098_5102del | NP_009231.2:p.Leu1700TyrfsTer2 | |
| NR_027676.2:n.5212_5216del |