ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063948_43063950del , CM000679.2:g.43063948_43063950del | GRCh38 |
| NC_000017.10:g.41215965_41215967del , CM000679.1:g.41215965_41215967del | GRCh37 |
| NC_000017.9:g.38469491_38469493del | NCBI36 |
| NG_005905.2:g.154036_154038del , LRG_292:g.154036_154038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5075_5077del | ENSP00000417241.2:p.Ala1692del | |
| ENST00000470026.6:c.5078_5080del | ENSP00000419274.2:p.Ala1693del | |
| ENST00000473961.6:c.4952_4954del | ENSP00000420201.2:p.Ala1651del | |
| ENST00000476777.6:c.5072_5074del | ENSP00000417554.2:p.Ala1691del | |
| ENST00000477152.6:c.5000_5002del | ENSP00000419988.2:p.Ala1667del | |
| ENST00000478531.6:c.1766_1768del | ENSP00000420412.2:p.Ala589del | |
| ENST00000489037.2:c.5000_5002del | ENSP00000420781.2:p.Ala1667del | |
| ENST00000493919.6:c.1628_1630del | ENSP00000418819.2:p.Ala543del | |
| ENST00000494123.6:c.5078_5080del | ENSP00000419103.2:p.Ala1693del | |
| ENST00000497488.2:c.4190_4192del | ENSP00000418986.2:p.Ala1397del | |
| ENST00000618469.2:c.5078_5080del | ENSP00000478114.2:p.Ala1693del | |
| ENST00000634433.2:c.4955_4957del | ENSP00000489431.2:p.Ala1652del | |
| ENST00000644379.2:c.5144_5146del | ENSP00000496570.2:p.Ala1715del | |
| ENST00000644555.2:c.1628_1630del | ENSP00000494614.2:p.Ala543del | |
| ENST00000652672.2:c.4937_4939del | ENSP00000498906.2:p.Ala1646del | |
| ENST00000484087.6:c.1640_1642del | ENSP00000419481.2:p.Ala547del | |
| ENST00000357654.9:c.5078_5080del MANE Select | ENSP00000350283.3:p.Ala1693del | |
| ENST00000471181.7:c.5141_5143del | ENSP00000418960.2:p.Ala1714del | |
| ENST00000644379.1:c.1465_1467del | ||
| ENST00000352993.7:c.1652_1654del | ENSP00000312236.5:p.Ala551del | |
| ENST00000357654.7:c.5078_5080del | ENSP00000350283.3:p.Ala1693del | |
| ENST00000461221.5:c.*4861_*4863del | ENSP00000418548.1:n.*4861_*4863del | |
| ENST00000468300.5:c.1766_1768del | ENSP00000417148.1:p.Ala589del | |
| ENST00000471181.6:c.5141_5143del | ENSP00000418960.2:p.Ala1714del | |
| ENST00000478531.5:c.1766_1768del | ENSP00000420412.1:p.Ala589del | |
| ENST00000484087.5:c.1391_1393del | ENSP00000419481.1:p.Ala464del | |
| ENST00000491747.6:c.1766_1768del | ENSP00000420705.2:p.Ala589del | |
| ENST00000493795.5:c.4937_4939del | ENSP00000418775.1:p.Ala1646del | |
| ENST00000493919.5:c.1628_1630del | ENSP00000418819.1:p.Ala543del | |
| ENST00000586385.5:c.8_10del | ENSP00000465818.1:p.Ala3del | |
| ENST00000591534.5:c.551_553del | ENSP00000467329.1:p.Ala184del | |
| ENST00000591849.5:c.-98-13758_-98-13756del | ENSP00000465347.1:n.-98-13758_-98-13756del | |
| NM_007294.3:c.5078_5080del , LRG_292t1:c.5078_5080del | NP_009225.1:p.Ala1693del | |
| NM_007297.3:c.4937_4939del | NP_009228.2:p.Ala1646del | |
| NM_007298.3:c.1766_1768del | NP_009229.2:p.Ala589del | |
| NM_007299.3:c.1766_1768del | NP_009230.2:p.Ala589del | |
| NM_007300.3:c.5141_5143del | NP_009231.2:p.Ala1714del | |
| NR_027676.1:n.5214_5216del | ||
| NM_007294.4:c.5078_5080del MANE Select | NP_009225.1:p.Ala1693del | |
| NM_007297.4:c.4937_4939del | NP_009228.2:p.Ala1646del | |
| NM_007299.4:c.1766_1768del | NP_009230.2:p.Ala589del | |
| NM_007300.4:c.5141_5143del | NP_009231.2:p.Ala1714del | |
| NR_027676.2:n.5255_5257del |