Linked Data
ClinVar Variation Id:
41108
ClinVar RCV Id:
RCV000034007
dbSNP Id:
rs312262821
PubMed:
PMID:20301367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736660_13736678del , CM000685.2:g.13736660_13736678del | GRCh38 |
| NC_000023.10:g.13754779_13754797del , CM000685.1:g.13754779_13754797del | GRCh37 |
| NC_000023.9:g.13664700_13664718del | NCBI36 |
| NG_008872.1:g.6948_6966del | |
| NG_011555.1:g.2950_2968del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380567.6:c.294_312del | ENSP00000369941.2:p.Ser98ArgfsTer? | |
| ENST00000398395.8:c.294_312del | ENSP00000381432.5:p.Ser98ArgfsTer? | |
| ENST00000464463.6:n.577_595del | ||
| ENST00000490265.6:n.156_174del | ||
| ENST00000682237.1:c.294_312del | ENSP00000507121.1:p.Ser98ArgfsTer? | |
| ENST00000682562.1:c.294_312del | ENSP00000507874.1:p.Ser98ArgfsTer? | |
| ENST00000682953.1:c.*357_*375del | ENSP00000507878.1:n.*357_*375del | |
| ENST00000683055.1:c.294_312del | ENSP00000508191.1:p.Ser98ArgfsTer? | |
| ENST00000683284.1:c.116_134del | ENSP00000507837.1:p.Val39GlyfsTer12 | |
| ENST00000683427.1:c.294_312del | ENSP00000507290.1:p.Ser98ArgfsTer? | |
| ENST00000683454.1:n.183_201del | ||
| ENST00000683655.1:c.294_312del | ENSP00000506770.1:p.Ser98ArgfsTer? | |
| ENST00000683713.1:c.294_312del | ENSP00000507797.1:p.Ser98ArgfsTer17 | |
| ENST00000684401.1:n.685_703del | ||
| ENST00000684577.1:c.294_312del | ENSP00000507871.1:p.Ser98ArgfsTer? | |
| ENST00000340096.11:c.294_312del MANE Select | ENSP00000344314.6:p.Ser98ArgfsTer? | |
| ENST00000340096.10:c.294_312del | ENSP00000344314.6:p.Ser98ArgfsTer? | |
| ENST00000380550.6:c.294_312del | ENSP00000369923.3:p.Ser98ArgfsTer? | |
| ENST00000380567.5:c.-252_-234del | ENSP00000369941.1:n.-252_-234del | |
| ENST00000398395.7:c.-241_-223del | ENSP00000381432.4:n.-241_-223del | |
| ENST00000490265.5:n.605_623del | ||
| NM_003611.2:c.294_312del | NP_003602.1:p.Ser98ArgfsTer? | |
| XM_005274599.2:c.315_333del | XP_005274656.1:p.Ser105ArgfsTer? | |
| XM_005274602.2:c.315_333del | XP_005274659.1:p.Ser105ArgfsTer? | |
| XM_005274603.2:c.315_333del | XP_005274660.1:p.Ser105ArgfsTer? | |
| XM_005274604.2:c.294_312del | XP_005274661.1:p.Ser98ArgfsTer? | |
| XM_005274606.2:c.150_168del | XP_005274663.1:p.Ser50ArgfsTer? | |
| XM_011545591.1:c.315_333del | XP_011543893.1:p.Ser105ArgfsTer? | |
| XM_011545592.1:c.102_120del | XP_011543894.1:p.Ser34ArgfsTer? | |
| XM_011545593.1:c.315_333del | XP_011543895.1:p.Ser105ArgfsTer? | |
| XM_011545594.1:c.-28_-10del | XP_011543896.1:n.-28_-10del | |
| XM_011545595.1:c.-28_-10del | XP_011543897.1:n.-28_-10del | |
| XM_011545596.1:c.315_333del | XP_011543898.1:p.Ser105ArgfsTer? | |
| XM_011545597.1:c.-252_-234del | XP_011543899.1:n.-252_-234del | |
| XR_247288.2:n.654_672del | ||
| NM_001330209.1:c.294_312del | NP_001317138.1:p.Ser98ArgfsTer? | |
| NM_001330210.1:c.-252_-234del | NP_001317139.1:n.-252_-234del | |
| XM_005274606.4:c.150_168del | XP_005274663.1:p.Ser50ArgfsTer? | |
| XM_011545592.3:c.102_120del | XP_011543894.1:p.Ser34ArgfsTer? | |
| XM_011545594.3:c.-28_-10del | XP_011543896.1:n.-28_-10del | |
| XM_011545597.2:c.-252_-234del | XP_011543899.1:n.-252_-234del | |
| XM_017029909.1:c.-252_-234del | XP_016885398.1:n.-252_-234del | |
| XM_024452468.1:c.-1646_-1628del | XP_024308236.1:n.-1646_-1628del | |
| XM_024452469.1:c.-1646_-1628del | XP_024308237.1:n.-1646_-1628del | |
| XM_024452470.1:c.-1646_-1628del | XP_024308238.1:n.-1646_-1628del | |
| XM_024452471.1:c.-1646_-1628del | XP_024308239.1:n.-1646_-1628del | |
| NM_003611.3:c.294_312del MANE Select | NP_003602.1:p.Ser98ArgfsTer? | |
| NM_001330209.2:c.294_312del | NP_001317138.1:p.Ser98ArgfsTer? | |
| NM_001330210.2:c.-252_-234del | NP_001317139.1:n.-252_-234del |