ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69941239del , CM000665.2:g.69941239del | GRCh38 |
| NC_000003.11:g.69990390del , CM000665.1:g.69990390del | GRCh37 |
| NC_000003.10:g.70073080del | NCBI36 |
| NG_011631.1:g.206758del , LRG_776:g.206758del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.622del | ENSP00000324443.5:p.Asp208MetfsTer3 | |
| ENST00000687384.1:c.619del | ENSP00000510225.1:p.Asp207MetfsTer3 | |
| ENST00000689390.1:n.844del | ||
| ENST00000693031.1:c.595del | ENSP00000509845.1:p.Asp199MetfsTer3 | |
| ENST00000693549.1:c.622del | ENSP00000509358.1:p.Asp208MetfsTer3 | |
| ENST00000314589.10:c.622del | ENSP00000324443.5:p.Asp208MetfsTer3 | |
| ENST00000352241.9:c.670del MANE Select | ENSP00000295600.8:p.Asp224MetfsTer3 | |
| ENST00000394351.9:c.349del MANE Plus Clinical | ENSP00000377880.3:p.Asp117MetfsTer3 | |
| ENST00000448226.9:c.667del | ENSP00000391803.3:p.Asp223MetfsTer3 | |
| ENST00000642352.1:c.670del | ENSP00000494105.1:p.Asp224MetfsTer3 | |
| ENST00000314557.10:c.349del | ENSP00000324246.6:p.Asp117MetfsTer3 | |
| ENST00000314589.9:c.622del | ENSP00000324443.5:p.Asp208MetfsTer3 | |
| ENST00000328528.10:c.667del | ENSP00000327867.6:p.Asp223MetfsTer3 | |
| ENST00000352241.8:c.670del | ENSP00000295600.7:p.Asp224MetfsTer3 | |
| ENST00000394351.7:c.349del | ENSP00000377880.3:p.Asp117MetfsTer3 | |
| ENST00000433517.5:c.346del | ENSP00000411389.1:p.Asp116MetfsTer3 | |
| ENST00000448226.6:c.670del | ENSP00000391803.2:p.Asp224MetfsTer3 | |
| ENST00000451708.5:c.622del | ENSP00000398639.1:p.Asp208MetfsTer3 | |
| ENST00000461014.1:n.660del | ||
| ENST00000472437.5:c.514del | ENSP00000418845.1:p.Asp172MetfsTer3 | |
| ENST00000478490.5:c.314del | ENSP00000433487.1:p.Gly105AspfsTer? | |
| ENST00000531774.1:c.181del | ENSP00000435909.1:p.Asp61MetfsTer3 | |
| NM_000248.3:c.349del , LRG_776t1:c.349del | NP_000239.1:p.Asp117MetfsTer3 | |
| NM_001184967.1:c.514del | NP_001171896.1:p.Asp172MetfsTer3 | |
| NM_006722.2:c.667del | NP_006713.1:p.Asp223MetfsTer3 | |
| NM_198158.2:c.349del | NP_937801.1:p.Asp117MetfsTer3 | |
| NM_198159.2:c.670del | NP_937802.1:p.Asp224MetfsTer3 | |
| NM_198177.2:c.622del | NP_937820.1:p.Asp208MetfsTer3 | |
| NM_198178.2:c.181del | NP_937821.2:p.Asp61MetfsTer3 | |
| XM_005264754.1:c.670del | XP_005264811.1:p.Asp224MetfsTer3 | |
| XM_005264755.2:c.622del | XP_005264812.1:p.Asp208MetfsTer3 | |
| XM_006713164.2:c.514del | XP_006713227.1:p.Asp172MetfsTer3 | |
| XM_011533722.1:c.667del | XP_011532024.1:p.Asp223MetfsTer3 | |
| XM_011533723.1:c.619del | XP_011532025.1:p.Asp207MetfsTer3 | |
| XM_011533724.1:c.514del | XP_011532026.1:p.Asp172MetfsTer3 | |
| XM_011533725.1:c.502del | XP_011532027.1:p.Asp168MetfsTer3 | |
| XM_011533726.1:c.502del | XP_011532028.1:p.Asp168MetfsTer3 | |
| NM_001354604.1:c.670del | NP_001341533.1:p.Asp224MetfsTer3 | |
| NM_001354605.1:c.667del | NP_001341534.1:p.Asp223MetfsTer3 | |
| NM_001354606.1:c.667del | NP_001341535.1:p.Asp223MetfsTer3 | |
| NM_001354607.1:c.619del | NP_001341536.1:p.Asp207MetfsTer3 | |
| NM_001354608.1:c.514del | NP_001341537.1:p.Asp172MetfsTer3 | |
| NM_001184967.2:c.514del | NP_001171896.1:p.Asp172MetfsTer3 | |
| NM_001354604.2:c.670del MANE Select | NP_001341533.1:p.Asp224MetfsTer3 | |
| NM_001354605.2:c.667del | NP_001341534.1:p.Asp223MetfsTer3 | |
| NM_001354606.2:c.667del | NP_001341535.1:p.Asp223MetfsTer3 | |
| NM_001354607.2:c.619del | NP_001341536.1:p.Asp207MetfsTer3 | |
| NM_001354608.2:c.514del | NP_001341537.1:p.Asp172MetfsTer3 | |
| NM_198158.3:c.349del | NP_937801.1:p.Asp117MetfsTer3 | |
| NM_198159.3:c.670del | NP_937802.1:p.Asp224MetfsTer3 | |
| NM_198177.3:c.622del | NP_937820.1:p.Asp208MetfsTer3 | |
| NM_198178.3:c.181del | NP_937821.2:p.Asp61MetfsTer3 | |
| NM_000248.4:c.349del MANE Plus Clinical | NP_000239.1:p.Asp117MetfsTer3 | |
| NM_006722.3:c.667del | NP_006713.1:p.Asp223MetfsTer3 |