Linked Data
ClinVar Variation Id:
374295
ClinVar RCV Id:
RCV000415040
dbSNP Id:
rs1057518679
gnomAD v4:
9-69227793-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69227797del , CM000671.2:g.69227797del | GRCh38 |
| NC_000009.11:g.71842713del , CM000671.1:g.71842713del | GRCh37 |
| NC_000009.10:g.71032533del | NCBI36 |
| NG_016342.1:g.111490del | |
| NG_016342.2:g.131891del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.1243del | ENSP00000345893.4:p.Ser415LeufsTer21 | |
| ENST00000377245.9:c.1243del MANE Select | ENSP00000366453.4:p.Ser415LeufsTer21 | |
| ENST00000535702.6:c.1255del | ENSP00000442090.1:p.Ser419LeufsTer21 | |
| ENST00000539225.2:c.1336del | ENSP00000438262.1:p.Ser446LeufsTer21 | |
| ENST00000636247.1:n.1322del | ||
| ENST00000636438.1:c.1420del | ENSP00000489860.1:p.Ser474LeufsTer21 | |
| ENST00000642889.1:c.1630del | ENSP00000493780.1:p.Ser544LeufsTer21 | |
| ENST00000643352.1:c.*1431del | ENSP00000496488.1:n.*1431del | |
| ENST00000645088.1:c.*1550del | ENSP00000495447.1:n.*1550del | |
| ENST00000647986.1:c.1174del | ENSP00000496877.1:p.Ser392LeufsTer21 | |
| ENST00000648087.1:n.1560del | ||
| ENST00000648153.1:n.386del | ||
| ENST00000649114.1:c.1243del | ENSP00000497328.1:p.Ser415LeufsTer21 | |
| ENST00000649134.1:c.1255del | ENSP00000498068.1:p.Ser419LeufsTer21 | |
| ENST00000649783.1:n.1267del | ||
| ENST00000649943.1:c.1243del | ENSP00000497539.1:p.Ser415LeufsTer21 | |
| ENST00000650084.1:c.1246del | ENSP00000497861.1:p.Ser416LeufsTer21 | |
| ENST00000650333.1:c.1174del | ENSP00000496791.1:p.Ser392LeufsTer21 | |
| ENST00000650460.1:c.516del | ||
| ENST00000650522.1:n.977-1387del | ||
| ENST00000265384.11:c.1243del | ENSP00000265384.7:p.Ser415LeufsTer21 | |
| ENST00000348208.8:c.1243del | ENSP00000345893.4:p.Ser415LeufsTer21 | |
| ENST00000377245.8:c.1243del | ENSP00000366453.4:p.Ser415LeufsTer21 | |
| ENST00000453658.6:c.1174del | ENSP00000392178.2:p.Ser392LeufsTer21 | |
| ENST00000535702.5:c.1255del | ENSP00000442090.1:p.Ser419LeufsTer21 | |
| ENST00000539225.1:c.1336del | ENSP00000438262.1:p.Ser446LeufsTer21 | |
| NM_001170414.2:c.1174del | NP_001163885.1:p.Ser392LeufsTer21 | |
| NM_001170415.1:c.1255del | NP_001163886.1:p.Ser419LeufsTer21 | |
| NM_001170416.1:c.1336del | NP_001163887.1:p.Ser446LeufsTer21 | |
| NM_001170630.1:c.1243del | NP_001164101.1:p.Ser415LeufsTer21 | |
| NM_004817.3:c.1243del | NP_004808.2:p.Ser415LeufsTer21 | |
| NM_201629.3:c.1243del | NP_963923.1:p.Ser415LeufsTer21 | |
| XM_005252314.1:c.1255del | XP_005252371.1:p.Ser419LeufsTer21 | |
| XM_006717324.2:c.1237del | XP_006717387.1:p.Ser413LeufsTer21 | |
| XM_011519204.1:c.1174del | XP_011517506.1:p.Ser392LeufsTer21 | |
| XM_011519205.1:c.1174del | XP_011517507.1:p.Ser392LeufsTer21 | |
| XM_011519206.1:c.1174del | XP_011517508.1:p.Ser392LeufsTer21 | |
| XM_011519207.1:c.1174del | XP_011517509.1:p.Ser392LeufsTer21 | |
| XM_011519208.1:c.1174del | XP_011517510.1:p.Ser392LeufsTer21 | |
| XM_011519209.1:c.1174del | XP_011517511.1:p.Ser392LeufsTer21 | |
| NM_004817.4:c.1243del MANE Select | NP_004808.2:p.Ser415LeufsTer21 | |
| XM_005252314.2:c.1255del | XP_005252371.1:p.Ser419LeufsTer21 | |
| XM_011519206.2:c.1174del | XP_011517508.1:p.Ser392LeufsTer21 | |
| XM_011519207.2:c.1174del | XP_011517509.1:p.Ser392LeufsTer21 | |
| XM_011519208.2:c.1174del | XP_011517510.1:p.Ser392LeufsTer21 | |
| XM_011519209.2:c.1174del | XP_011517511.1:p.Ser392LeufsTer21 | |
| XM_017015327.2:c.1243del | XP_016870816.1:p.Ser415LeufsTer21 | |
| XM_017015328.1:c.1255del | XP_016870817.1:p.Ser419LeufsTer21 | |
| NM_001170416.2:c.1336del | NP_001163887.1:p.Ser446LeufsTer21 | |
| NM_001369870.1:c.1174del | NP_001356799.1:p.Ser392LeufsTer21 | |
| NM_001369871.1:c.1174del | NP_001356800.1:p.Ser392LeufsTer21 | |
| NM_001369872.1:c.1243del | NP_001356801.1:p.Ser415LeufsTer21 | |
| NM_001369873.1:c.1243del | NP_001356802.1:p.Ser415LeufsTer21 | |
| NM_001369874.1:c.1255del | NP_001356803.1:p.Ser419LeufsTer21 | |
| NM_001369875.1:c.1255del | NP_001356804.1:p.Ser419LeufsTer21 |