Linked Data
ClinVar Variation Id:
346585
ClinVar RCV Id:
RCV000341763
dbSNP Id:
rs886058837
gnomAD v2:
3-71005915-TTTTTTTTTTA-T
gnomAD v3:
3-70956764-TTTTTTTTTTA-T
gnomAD v4:
3-70956764-TTTTTTTTTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.70956765_70956774del , CM000665.2:g.70956765_70956774del | GRCh38 |
| NC_000003.11:g.71005916_71005925del , CM000665.1:g.71005916_71005925del | GRCh37 |
| NC_000003.10:g.71088606_71088615del | NCBI36 |
| NG_028243.1:g.632216_632225del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318789.11:c.*2473_*2482del | ENSP00000318902.5:n.*2473_*2482del | |
| ENST00000615603.5:n.4938_4947del | ||
| ENST00000318789.10:c.*2473_*2482del | ENSP00000318902.5:n.*2473_*2482del | |
| ENST00000649528.3:c.*2473_*2482del MANE Select | ENSP00000497369.1:n.*2473_*2482del | |
| ENST00000674446.1:c.*2473_*2482del | ENSP00000501439.1:n.*2473_*2482del | |
| ENST00000318789.8:c.*2473_*2482del | ENSP00000318902.4:n.*2473_*2482del | |
| ENST00000475937.5:c.*2473_*2482del | ENSP00000419393.1:n.*2473_*2482del | |
| ENST00000614176.4:c.*2473_*2482del | ENSP00000482847.1:n.*2473_*2482del | |
| ENST00000615603.4:c.*2473_*2482del | ENSP00000484803.1:n.*2473_*2482del | |
| NM_001244808.1:c.*2473_*2482del | NP_001231737.1:n.*2473_*2482del | |
| NM_001244810.1:c.*2473_*2482del | NP_001231739.1:n.*2473_*2482del | |
| NM_001244812.1:c.*2473_*2482del | NP_001231741.1:n.*2473_*2482del | |
| NM_001244813.1:c.*2473_*2482del | NP_001231742.1:n.*2473_*2482del | |
| NM_001244814.1:c.*2473_*2482del | NP_001231743.1:n.*2473_*2482del | |
| NM_001244815.1:c.*2473_*2482del | NP_001231744.1:n.*2473_*2482del | |
| NM_001244816.1:c.*2473_*2482del | NP_001231745.1:n.*2473_*2482del | |
| NM_032682.5:c.*2473_*2482del | NP_116071.2:n.*2473_*2482del | |
| XM_005264735.2:c.*2473_*2482del | XP_005264792.1:n.*2473_*2482del | |
| XM_005264736.2:c.*2473_*2482del | XP_005264793.1:n.*2473_*2482del | |
| XM_005264737.3:c.*2473_*2482del | XP_005264794.1:n.*2473_*2482del | |
| XM_005264742.2:c.*2473_*2482del | XP_005264799.1:n.*2473_*2482del | |
| XM_006713102.1:c.*2473_*2482del | XP_006713165.1:n.*2473_*2482del | |
| XM_006713103.1:c.*2473_*2482del | XP_006713166.1:n.*2473_*2482del | |
| XM_006713104.1:c.*2473_*2482del | XP_006713167.1:n.*2473_*2482del | |
| XM_011533584.1:c.*2473_*2482del | XP_011531886.1:n.*2473_*2482del | |
| XM_011533585.1:c.*2473_*2482del | XP_011531887.1:n.*2473_*2482del | |
| XM_011533586.1:c.*2473_*2482del | XP_011531888.1:n.*2473_*2482del | |
| XM_011533587.1:c.*2473_*2482del | XP_011531889.1:n.*2473_*2482del | |
| XM_011533588.1:c.*2473_*2482del | XP_011531890.1:n.*2473_*2482del | |
| XR_427266.2:n.8339_8348del | ||
| XR_940413.1:n.4941_4950del | ||
| XR_940414.1:n.8489_8498del | ||
| NM_001349337.1:c.*2473_*2482del | NP_001336266.1:n.*2473_*2482del | |
| NM_001349338.1:c.*2473_*2482del | NP_001336267.1:n.*2473_*2482del | |
| NM_001349340.1:c.*2473_*2482del | NP_001336269.1:n.*2473_*2482del | |
| NM_001349341.1:c.*2473_*2482del | NP_001336270.1:n.*2473_*2482del | |
| NM_001349342.1:c.*2473_*2482del | NP_001336271.1:n.*2473_*2482del | |
| NM_001349343.1:c.*2473_*2482del | NP_001336272.1:n.*2473_*2482del | |
| NM_001349344.1:c.*2473_*2482del | NP_001336273.1:n.*2473_*2482del | |
| NR_146142.1:n.5048_5057del | ||
| NR_146143.1:n.5045_5054del | ||
| XM_006713102.2:c.*2473_*2482del | XP_006713165.1:n.*2473_*2482del | |
| XM_011533585.3:c.*2473_*2482del | XP_011531887.1:n.*2473_*2482del | |
| XM_017006165.1:c.*2473_*2482del | XP_016861654.1:n.*2473_*2482del | |
| NM_001244808.2:c.*2473_*2482del | NP_001231737.1:n.*2473_*2482del | |
| NM_001244812.2:c.*2473_*2482del | NP_001231741.1:n.*2473_*2482del | |
| NM_001244813.2:c.*2473_*2482del | NP_001231742.1:n.*2473_*2482del | |
| NM_001244814.2:c.*2473_*2482del | NP_001231743.1:n.*2473_*2482del | |
| NM_001244815.2:c.*2473_*2482del | NP_001231744.2:n.*2473_*2482del | |
| NM_001349337.2:c.*2473_*2482del | NP_001336266.2:n.*2473_*2482del | |
| NM_001349338.2:c.*2473_*2482del | NP_001336267.1:n.*2473_*2482del | |
| NM_001349340.2:c.*2473_*2482del | NP_001336269.1:n.*2473_*2482del | |
| NM_001349341.2:c.*2473_*2482del | NP_001336270.1:n.*2473_*2482del | |
| NM_001349342.2:c.*2473_*2482del | NP_001336271.1:n.*2473_*2482del | |
| NM_001349343.2:c.*2473_*2482del | NP_001336272.1:n.*2473_*2482del | |
| NM_001349344.2:c.*2473_*2482del | NP_001336273.1:n.*2473_*2482del | |
| NM_001370548.1:c.*2473_*2482del | NP_001357477.1:n.*2473_*2482del | |
| NM_032682.6:c.*2473_*2482del | NP_116071.2:n.*2473_*2482del | |
| NR_146142.2:n.5023_5032del | ||
| NR_146143.2:n.5020_5029del | ||
| NM_001244808.3:c.*2473_*2482del | NP_001231737.1:n.*2473_*2482del | |
| NM_001244810.2:c.*2473_*2482del | NP_001231739.1:n.*2473_*2482del | |
| NM_001244812.3:c.*2473_*2482del | NP_001231741.1:n.*2473_*2482del | |
| NM_001244813.3:c.*2473_*2482del | NP_001231742.1:n.*2473_*2482del | |
| NM_001244814.3:c.*2473_*2482del | NP_001231743.1:n.*2473_*2482del | |
| NM_001244816.2:c.*2473_*2482del | NP_001231745.1:n.*2473_*2482del | |
| NM_001349338.3:c.*2473_*2482del MANE Select | NP_001336267.1:n.*2473_*2482del | |
| NM_001349340.3:c.*2473_*2482del | NP_001336269.1:n.*2473_*2482del | |
| NM_001349341.3:c.*2473_*2482del | NP_001336270.1:n.*2473_*2482del | |
| NM_001349342.3:c.*2473_*2482del | NP_001336271.1:n.*2473_*2482del | |
| NM_001349343.3:c.*2473_*2482del | NP_001336272.1:n.*2473_*2482del | |
| NM_001349344.3:c.*2473_*2482del | NP_001336273.1:n.*2473_*2482del | |
| NR_146142.3:n.5023_5032del | ||
| NR_146143.3:n.5020_5029del |