Linked Data
ClinVar Variation Id:
803213
ClinVar RCV Id:
RCV000989521
dbSNP Id:
rs1379582796
gnomAD v2:
16-9858058-CTCTA-C
gnomAD v3:
16-9764201-CTCTA-C
gnomAD v4:
16-9764201-CTCTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764202_9764205del , CM000678.2:g.9764202_9764205del | GRCh38 |
| NC_000016.9:g.9858059_9858062del , CM000678.1:g.9858059_9858062del | GRCh37 |
| NC_000016.8:g.9765560_9765563del | NCBI36 |
| NG_011812.1:g.423550_423553del | |
| NG_011812.2:g.423550_423553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.3339_3342del MANE Select | ENSP00000332549.3:p.Arg1114ThrfsTer6 | |
| ENST00000535259.6:c.2868_2871del | ENSP00000441572.3:p.Arg957ThrfsTer6 | |
| ENST00000636273.2:n.2932_2935del | ||
| ENST00000674742.1:c.2868_2871del | ENSP00000502200.1:p.Arg957ThrfsTer6 | |
| ENST00000675398.1:c.*709_*712del | ENSP00000502752.1:n.*709_*712del | |
| ENST00000330684.3:c.3339_3342del | ENSP00000332549.3:p.Arg1114ThrfsTer6 | |
| ENST00000396573.6:c.3339_3342del | ENSP00000379818.2:p.Arg1114ThrfsTer6 | |
| ENST00000396575.6:c.2928_2931del | ENSP00000379820.3:p.Arg977ThrfsTer6 | |
| ENST00000461292.3:n.2978_2981del | ||
| ENST00000535259.5:c.2928_2931del | ENSP00000441572.2:p.Arg977ThrfsTer6 | |
| ENST00000562109.5:c.3339_3342del | ENSP00000454998.1:p.Arg1114ThrfsTer6 | |
| NM_000833.4:c.3339_3342del | NP_000824.1:p.Arg1114ThrfsTer6 | |
| NM_001134407.2:c.3339_3342del | NP_001127879.1:p.Arg1114ThrfsTer6 | |
| NM_001134408.2:c.3339_3342del | NP_001127880.1:p.Arg1114ThrfsTer6 | |
| XM_011522456.1:c.3180_3183del | XP_011520758.1:p.Arg1061ThrfsTer6 | |
| XM_011522457.1:c.3081_3084del | XP_011520759.1:p.Arg1028ThrfsTer6 | |
| XM_011522458.1:c.2868_2871del | XP_011520760.1:p.Arg957ThrfsTer6 | |
| XM_011522459.1:c.2868_2871del | XP_011520761.1:p.Arg957ThrfsTer6 | |
| XM_011522460.1:c.2868_2871del | XP_011520762.1:p.Arg957ThrfsTer6 | |
| XM_011522461.1:c.3339_3342del | XP_011520763.1:p.Arg1114ThrfsTer6 | |
| XM_011522458.3:c.2868_2871del | XP_011520760.1:p.Arg957ThrfsTer6 | |
| XM_011522461.3:c.3339_3342del | XP_011520763.1:p.Arg1114ThrfsTer6 | |
| XM_017023172.1:c.3495_3498del | XP_016878661.1:p.Arg1166ThrfsTer6 | |
| XM_017023173.1:c.3495_3498del | XP_016878662.1:p.Arg1166ThrfsTer6 | |
| NM_001134407.3:c.3339_3342del MANE Select | NP_001127879.1:p.Arg1114ThrfsTer6 | |
| NM_000833.5:c.3339_3342del | NP_000824.1:p.Arg1114ThrfsTer6 |