Linked Data
dbSNP Id:
rs1219086187
gnomAD v2:
16-9857275-GTT-G
gnomAD v3:
16-9763418-GTT-G
gnomAD v4:
16-9763418-GTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763419_9763420del , CM000678.2:g.9763419_9763420del | GRCh38 |
| NC_000016.9:g.9857276_9857277del , CM000678.1:g.9857276_9857277del | GRCh37 |
| NC_000016.8:g.9764777_9764778del | NCBI36 |
| NG_011812.1:g.424335_424336del | |
| NG_011812.2:g.424335_424336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4124_4125del MANE Select | ENSP00000332549.3:p.Gln1375ProfsTer23 | |
| ENST00000535259.6:c.3310_3311del | ENSP00000441572.3:p.Asn1104ArgfsTer? | |
| ENST00000636273.2:n.3374_3375del | ||
| ENST00000674742.1:c.3653_3654del | ENSP00000502200.1:p.Gln1218ProfsTer23 | |
| ENST00000675398.1:c.*1494_*1495del | ENSP00000502752.1:n.*1494_*1495del | |
| ENST00000330684.3:c.4124_4125del | ENSP00000332549.3:p.Gln1375ProfsTer23 | |
| ENST00000396573.6:c.4124_4125del | ENSP00000379818.2:p.Gln1375ProfsTer23 | |
| ENST00000396575.6:c.3713_3714del | ENSP00000379820.3:p.Gln1238ProfsTer23 | |
| ENST00000461292.3:n.3420_3421del | ||
| ENST00000535259.5:c.3370_3371del | ENSP00000441572.2:p.Asn1124ArgfsTer? | |
| ENST00000562109.5:c.3781_3782del | ENSP00000454998.1:p.Asn1261ArgfsTer? | |
| NM_000833.4:c.4124_4125del | NP_000824.1:p.Gln1375ProfsTer23 | |
| NM_001134407.2:c.4124_4125del | NP_001127879.1:p.Gln1375ProfsTer23 | |
| NM_001134408.2:c.3781_3782del | NP_001127880.1:p.Asn1261ArgfsTer? | |
| XM_011522456.1:c.3965_3966del | XP_011520758.1:p.Gln1322ProfsTer23 | |
| XM_011522457.1:c.3866_3867del | XP_011520759.1:p.Gln1289ProfsTer23 | |
| XM_011522458.1:c.3653_3654del | XP_011520760.1:p.Gln1218ProfsTer23 | |
| XM_011522459.1:c.3653_3654del | XP_011520761.1:p.Gln1218ProfsTer23 | |
| XM_011522460.1:c.3653_3654del | XP_011520762.1:p.Gln1218ProfsTer23 | |
| XM_011522461.1:c.3781_3782del | XP_011520763.1:p.Asn1261ArgfsTer? | |
| XM_011522458.3:c.3653_3654del | XP_011520760.1:p.Gln1218ProfsTer23 | |
| XM_011522461.3:c.3781_3782del | XP_011520763.1:p.Asn1261ArgfsTer? | |
| XM_017023172.1:c.4280_4281del | XP_016878661.1:p.Gln1427ProfsTer23 | |
| XM_017023173.1:c.3937_3938del | XP_016878662.1:p.Asn1313ArgfsTer? | |
| NM_001134407.3:c.4124_4125del MANE Select | NP_001127879.1:p.Gln1375ProfsTer23 | |
| NM_000833.5:c.4124_4125del | NP_000824.1:p.Gln1375ProfsTer23 |