ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298383del , CM000672.2:g.94298383del | GRCh38 |
| NC_000010.10:g.96058140del , CM000672.1:g.96058140del | GRCh37 |
| NC_000010.9:g.96048130del | NCBI36 |
| NG_015799.1:g.309395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4248del | ENSP00000360426.1:p.Cys1417ValfsTer? | |
| ENST00000685253.1:c.*1715del | ENSP00000509405.1:n.*1715del | |
| ENST00000685889.1:n.1907del | ||
| ENST00000686807.1:n.591del | ||
| ENST00000686954.1:c.*456del | ENSP00000508416.1:n.*456del | |
| ENST00000688810.1:c.4200del | ENSP00000509140.1:p.Cys1401ValfsTer? | |
| ENST00000689233.1:n.9380del | ||
| ENST00000690340.1:n.2845del | ||
| ENST00000692286.1:c.5040del | ENSP00000509490.1:p.Cys1681ValfsTer? | |
| ENST00000692396.1:c.5124del | ENSP00000508605.1:p.Cys1709ValfsTer? | |
| ENST00000371380.8:c.5172del MANE Select | ENSP00000360431.2:p.Cys1725ValfsTer? | |
| ENST00000371385.8:c.4146del | ENSP00000360438.4:p.Cys1383ValfsTer? | |
| ENST00000674738.1:c.3727del | ||
| ENST00000674827.1:c.3288del | ENSP00000502523.1:p.Cys1097ValfsTer? | |
| ENST00000675218.1:c.4248del | ENSP00000501910.1:p.Cys1417ValfsTer? | |
| ENST00000675487.1:c.*1105del | ENSP00000502340.1:n.*1105del | |
| ENST00000675718.1:c.4441del | ||
| ENST00000676102.1:c.4017del | ENSP00000502811.1:p.Cys1340ValfsTer? | |
| ENST00000260766.7:c.5172del | ENSP00000260766.3:p.Cys1725ValfsTer? | |
| ENST00000371375.1:c.4248del | ENSP00000360426.1:p.Cys1417ValfsTer? | |
| ENST00000371380.7:c.5172del | ENSP00000360431.2:p.Cys1725ValfsTer? | |
| ENST00000371385.7:c.4248del | ENSP00000360438.3:p.Cys1417ValfsTer? | |
| NM_001165979.2:c.4248del | NP_001159451.1:p.Cys1417ValfsTer? | |
| NM_001288989.1:c.5124del | NP_001275918.1:p.Cys1709ValfsTer? | |
| NM_016341.3:c.5172del | NP_057425.3:p.Cys1725ValfsTer? | |
| XM_006717885.2:c.5214del | XP_006717948.1:p.Cys1739ValfsTer? | |
| XM_006717886.2:c.5214del | XP_006717949.1:p.Cys1739ValfsTer? | |
| XM_006717888.2:c.5211del | XP_006717951.1:p.Cys1738ValfsTer? | |
| XM_006717889.2:c.5166del | XP_006717952.1:p.Cys1723ValfsTer? | |
| XM_006717890.1:c.4290del | XP_006717953.1:p.Cys1431ValfsTer? | |
| XM_011539849.1:c.5214del | XP_011538151.1:p.Cys1739ValfsTer? | |
| XM_011539850.1:c.4059del | XP_011538152.1:p.Cys1354ValfsTer? | |
| XM_006717885.4:c.5214del | XP_006717948.1:p.Cys1739ValfsTer? | |
| XM_006717888.4:c.5211del | XP_006717951.1:p.Cys1738ValfsTer? | |
| XM_006717889.4:c.5166del | XP_006717952.1:p.Cys1723ValfsTer? | |
| XM_006717890.3:c.4290del | XP_006717953.1:p.Cys1431ValfsTer? | |
| XM_011539849.3:c.5214del | XP_011538151.1:p.Cys1739ValfsTer? | |
| XM_011539850.3:c.4059del | XP_011538152.1:p.Cys1354ValfsTer? | |
| XM_017016310.2:c.5214del | XP_016871799.1:p.Cys1739ValfsTer? | |
| XM_017016311.2:c.5214del | XP_016871800.1:p.Cys1739ValfsTer? | |
| XM_017016312.2:c.4200del | XP_016871801.1:p.Cys1401ValfsTer? | |
| NM_001288989.2:c.5124del | NP_001275918.1:p.Cys1709ValfsTer? | |
| NM_016341.4:c.5172del MANE Select | NP_057425.3:p.Cys1725ValfsTer? |