Linked Data
dbSNP Id:
rs761213659
ExAC:
16:9857386 TC / T
gnomAD v2:
16-9857386-TC-T
gnomAD v4:
16-9763529-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763533del , CM000678.2:g.9763533del | GRCh38 |
| NC_000016.9:g.9857390del , CM000678.1:g.9857390del | GRCh37 |
| NC_000016.8:g.9764891del | NCBI36 |
| NG_011812.1:g.424225del | |
| NG_011812.2:g.424225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4014del MANE Select | ENSP00000332549.3:p.Ser1341AlafsTer? | |
| ENST00000535259.6:c.3302-102del | ENSP00000441572.3:n.3302-102del | |
| ENST00000636273.2:n.3366-102del | ||
| ENST00000674742.1:c.3543del | ENSP00000502200.1:p.Ser1184AlafsTer? | |
| ENST00000675398.1:c.*1384del | ENSP00000502752.1:n.*1384del | |
| ENST00000330684.3:c.4014del | ENSP00000332549.3:p.Ser1341AlafsTer? | |
| ENST00000396573.6:c.4014del | ENSP00000379818.2:p.Ser1341AlafsTer? | |
| ENST00000396575.6:c.3603del | ENSP00000379820.3:p.Ser1204AlafsTer? | |
| ENST00000461292.3:n.3412-102del | ||
| ENST00000535259.5:c.3362-102del | ENSP00000441572.2:n.3362-102del | |
| ENST00000562109.5:c.3773-102del | ENSP00000454998.1:n.3773-102del | |
| NM_000833.4:c.4014del | NP_000824.1:p.Ser1341AlafsTer? | |
| NM_001134407.2:c.4014del | NP_001127879.1:p.Ser1341AlafsTer? | |
| NM_001134408.2:c.3773-102del | NP_001127880.1:n.3773-102del | |
| XM_011522456.1:c.3855del | XP_011520758.1:p.Ser1288AlafsTer? | |
| XM_011522457.1:c.3756del | XP_011520759.1:p.Ser1255AlafsTer? | |
| XM_011522458.1:c.3543del | XP_011520760.1:p.Ser1184AlafsTer? | |
| XM_011522459.1:c.3543del | XP_011520761.1:p.Ser1184AlafsTer? | |
| XM_011522460.1:c.3543del | XP_011520762.1:p.Ser1184AlafsTer? | |
| XM_011522461.1:c.3773-102del | XP_011520763.1:n.3773-102del | |
| XM_011522458.3:c.3543del | XP_011520760.1:p.Ser1184AlafsTer? | |
| XM_011522461.3:c.3773-102del | XP_011520763.1:n.3773-102del | |
| XM_017023172.1:c.4170del | XP_016878661.1:p.Ser1393AlafsTer? | |
| XM_017023173.1:c.3929-102del | XP_016878662.1:n.3929-102del | |
| NM_001134407.3:c.4014del MANE Select | NP_001127879.1:p.Ser1341AlafsTer? | |
| NM_000833.5:c.4014del | NP_000824.1:p.Ser1341AlafsTer? |