ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071159_43071160del , CM000679.2:g.43071159_43071160del | GRCh38 |
| NC_000017.10:g.41223176_41223177del , CM000679.1:g.41223176_41223177del | GRCh37 |
| NC_000017.9:g.38476702_38476703del | NCBI36 |
| NG_005905.2:g.146824_146825del , LRG_292:g.146824_146825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4751_4752del | ENSP00000417241.2:p.Pro1584ArgfsTer? | |
| ENST00000470026.6:c.4754_4755del | ENSP00000419274.2:p.Pro1585ArgfsTer? | |
| ENST00000473961.6:c.4628_4629del | ENSP00000420201.2:p.Pro1543ArgfsTer? | |
| ENST00000476777.6:c.4748_4749del | ENSP00000417554.2:p.Pro1583ArgfsTer? | |
| ENST00000477152.6:c.4676_4677del | ENSP00000419988.2:p.Pro1559ArgfsTer? | |
| ENST00000478531.6:c.1442_1443del | ENSP00000420412.2:p.Pro481ArgfsTer? | |
| ENST00000489037.2:c.4676_4677del | ENSP00000420781.2:p.Pro1559ArgfsTer? | |
| ENST00000493919.6:c.1304_1305del | ENSP00000418819.2:p.Pro435ArgfsTer? | |
| ENST00000494123.6:c.4754_4755del | ENSP00000419103.2:p.Pro1585ArgfsTer? | |
| ENST00000497488.2:c.3866_3867del | ENSP00000418986.2:p.Pro1289ArgfsTer? | |
| ENST00000618469.2:c.4754_4755del | ENSP00000478114.2:p.Pro1585ArgfsTer? | |
| ENST00000634433.2:c.4631_4632del | ENSP00000489431.2:p.Pro1544ArgfsTer? | |
| ENST00000644379.2:c.4820_4821del | ENSP00000496570.2:p.Pro1607ArgfsTer? | |
| ENST00000644555.2:c.1304_1305del | ENSP00000494614.2:p.Pro435ArgfsTer? | |
| ENST00000652672.2:c.4613_4614del | ENSP00000498906.2:p.Pro1538ArgfsTer? | |
| ENST00000484087.6:c.1316_1317del | ENSP00000419481.2:p.Pro439ArgfsTer? | |
| ENST00000700182.1:c.1361_1362del | ENSP00000514849.1:p.Pro454ArgfsTer? | |
| ENST00000357654.9:c.4754_4755del MANE Select | ENSP00000350283.3:p.Pro1585ArgfsTer? | |
| ENST00000471181.7:c.4817_4818del | ENSP00000418960.2:p.Pro1606ArgfsTer? | |
| ENST00000644379.1:c.1141_1142del | ||
| ENST00000352993.7:c.1328_1329del | ENSP00000312236.5:p.Pro443ArgfsTer? | |
| ENST00000357654.7:c.4754_4755del | ENSP00000350283.3:p.Pro1585ArgfsTer? | |
| ENST00000461221.5:c.*4537_*4538del | ENSP00000418548.1:n.*4537_*4538del | |
| ENST00000468300.5:c.1442_1443del | ENSP00000417148.1:p.Pro481ArgfsTer? | |
| ENST00000471181.6:c.4817_4818del | ENSP00000418960.2:p.Pro1606ArgfsTer? | |
| ENST00000478531.5:c.1442_1443del | ENSP00000420412.1:p.Pro481ArgfsTer? | |
| ENST00000484087.5:c.1067_1068del | ENSP00000419481.1:p.Pro356ArgfsTer? | |
| ENST00000491747.6:c.1442_1443del | ENSP00000420705.2:p.Pro481ArgfsTer? | |
| ENST00000493795.5:c.4613_4614del | ENSP00000418775.1:p.Pro1538ArgfsTer? | |
| ENST00000493919.5:c.1304_1305del | ENSP00000418819.1:p.Pro435ArgfsTer? | |
| ENST00000586385.5:c.5-7209_5-7208del | ENSP00000465818.1:n.5-7209_5-7208del | |
| ENST00000591534.5:c.227_228del | ENSP00000467329.1:p.Pro76ArgfsTer? | |
| ENST00000591849.5:c.-98-20970_-98-20969del | ENSP00000465347.1:n.-98-20970_-98-20969del | |
| NM_007294.3:c.4754_4755del , LRG_292t1:c.4754_4755del | NP_009225.1:p.Pro1585ArgfsTer? | |
| NM_007297.3:c.4613_4614del | NP_009228.2:p.Pro1538ArgfsTer? | |
| NM_007298.3:c.1442_1443del | NP_009229.2:p.Pro481ArgfsTer? | |
| NM_007299.3:c.1442_1443del | NP_009230.2:p.Pro481ArgfsTer? | |
| NM_007300.3:c.4817_4818del | NP_009231.2:p.Pro1606ArgfsTer? | |
| NR_027676.1:n.4890_4891del | ||
| NM_007294.4:c.4754_4755del MANE Select | NP_009225.1:p.Pro1585ArgfsTer? | |
| NM_007297.4:c.4613_4614del | NP_009228.2:p.Pro1538ArgfsTer? | |
| NM_007299.4:c.1442_1443del | NP_009230.2:p.Pro481ArgfsTer? | |
| NM_007300.4:c.4817_4818del | NP_009231.2:p.Pro1606ArgfsTer? | |
| NR_027676.2:n.4931_4932del |