MyVariant.info:
GRCh38
chr9:g.69221429del
GRCh38
chr9:g.69221426del
GRCh37
chr9:g.71836345del
GRCh37
chr9:g.71836342del
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000378 (SAS)
Exomes Max Group AF
0.000004 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69221429del , CM000671.2:g.69221429del | GRCh38 |
| NC_000009.11:g.71836345del , CM000671.1:g.71836345del | GRCh37 |
| NC_000009.10:g.71026165del | NCBI36 |
| NG_016342.1:g.105122del | |
| NG_016342.2:g.125523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348208.9:c.885del | ENSP00000345893.4:p.Ser296AlafsTer15 | |
| ENST00000377245.9:c.885del MANE Select | ENSP00000366453.4:p.Ser296AlafsTer15 | |
| ENST00000535702.6:c.897del | ENSP00000442090.1:p.Ser300AlafsTer15 | |
| ENST00000539225.2:c.978del | ENSP00000438262.1:p.Ser327AlafsTer15 | |
| ENST00000636247.1:n.964del | ||
| ENST00000636438.1:c.1062del | ENSP00000489860.1:p.Ser355AlafsTer15 | |
| ENST00000642889.1:c.1272del | ENSP00000493780.1:p.Ser425AlafsTer15 | |
| ENST00000643352.1:c.*1073del | ENSP00000496488.1:n.*1073del | |
| ENST00000645088.1:c.*1192del | ENSP00000495447.1:n.*1192del | |
| ENST00000647986.1:c.816del | ENSP00000496877.1:p.Ser273AlafsTer15 | |
| ENST00000648087.1:n.1202del | ||
| ENST00000648862.1:n.97del | ||
| ENST00000649114.1:c.885del | ENSP00000497328.1:p.Ser296AlafsTer15 | |
| ENST00000649134.1:c.897del | ENSP00000498068.1:p.Ser300AlafsTer15 | |
| ENST00000649783.1:n.909del | ||
| ENST00000649943.1:c.885del | ENSP00000497539.1:p.Ser296AlafsTer15 | |
| ENST00000650084.1:c.888del | ENSP00000497861.1:p.Ser297AlafsTer15 | |
| ENST00000650333.1:c.816del | ENSP00000496791.1:p.Ser273AlafsTer15 | |
| ENST00000650460.1:c.158del | ||
| ENST00000650522.1:n.909del | ||
| ENST00000265384.11:c.885del | ENSP00000265384.7:p.Ser296AlafsTer15 | |
| ENST00000348208.8:c.885del | ENSP00000345893.4:p.Ser296AlafsTer15 | |
| ENST00000377245.8:c.885del | ENSP00000366453.4:p.Ser296AlafsTer15 | |
| ENST00000453658.6:c.816del | ENSP00000392178.2:p.Ser273AlafsTer15 | |
| ENST00000535702.5:c.897del | ENSP00000442090.1:p.Ser300AlafsTer15 | |
| ENST00000539225.1:c.978del | ENSP00000438262.1:p.Ser327AlafsTer15 | |
| NM_001170414.2:c.816del | NP_001163885.1:p.Ser273AlafsTer15 | |
| NM_001170415.1:c.897del | NP_001163886.1:p.Ser300AlafsTer15 | |
| NM_001170416.1:c.978del | NP_001163887.1:p.Ser327AlafsTer15 | |
| NM_001170630.1:c.885del | NP_001164101.1:p.Ser296AlafsTer15 | |
| NM_004817.3:c.885del | NP_004808.2:p.Ser296AlafsTer15 | |
| NM_201629.3:c.885del | NP_963923.1:p.Ser296AlafsTer15 | |
| XM_005252314.1:c.897del | XP_005252371.1:p.Ser300AlafsTer15 | |
| XM_006717324.2:c.879del | XP_006717387.1:p.Ser294AlafsTer15 | |
| XM_011519204.1:c.816del | XP_011517506.1:p.Ser273AlafsTer15 | |
| XM_011519205.1:c.816del | XP_011517507.1:p.Ser273AlafsTer15 | |
| XM_011519206.1:c.816del | XP_011517508.1:p.Ser273AlafsTer15 | |
| XM_011519207.1:c.816del | XP_011517509.1:p.Ser273AlafsTer15 | |
| XM_011519208.1:c.816del | XP_011517510.1:p.Ser273AlafsTer15 | |
| XM_011519209.1:c.816del | XP_011517511.1:p.Ser273AlafsTer15 | |
| NM_004817.4:c.885del MANE Select | NP_004808.2:p.Ser296AlafsTer15 | |
| XM_005252314.2:c.897del | XP_005252371.1:p.Ser300AlafsTer15 | |
| XM_011519206.2:c.816del | XP_011517508.1:p.Ser273AlafsTer15 | |
| XM_011519207.2:c.816del | XP_011517509.1:p.Ser273AlafsTer15 | |
| XM_011519208.2:c.816del | XP_011517510.1:p.Ser273AlafsTer15 | |
| XM_011519209.2:c.816del | XP_011517511.1:p.Ser273AlafsTer15 | |
| XM_017015327.2:c.885del | XP_016870816.1:p.Ser296AlafsTer15 | |
| XM_017015328.1:c.897del | XP_016870817.1:p.Ser300AlafsTer15 | |
| NM_001170416.2:c.978del | NP_001163887.1:p.Ser327AlafsTer15 | |
| NM_001369870.1:c.816del | NP_001356799.1:p.Ser273AlafsTer15 | |
| NM_001369871.1:c.816del | NP_001356800.1:p.Ser273AlafsTer15 | |
| NM_001369872.1:c.885del | NP_001356801.1:p.Ser296AlafsTer15 | |
| NM_001369873.1:c.885del | NP_001356802.1:p.Ser296AlafsTer15 | |
| NM_001369874.1:c.897del | NP_001356803.1:p.Ser300AlafsTer15 | |
| NM_001369875.1:c.897del | NP_001356804.1:p.Ser300AlafsTer15 |