Linked Data
dbSNP Id:
rs777041615
ExAC:
16:9858433 CATTGAG / C
gnomAD v2:
16-9858433-CATTGAG-C
gnomAD v4:
16-9764576-CATTGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764578_9764583del , CM000678.2:g.9764578_9764583del | GRCh38 |
| NC_000016.9:g.9858435_9858440del , CM000678.1:g.9858435_9858440del | GRCh37 |
| NC_000016.8:g.9765936_9765941del | NCBI36 |
| NG_011812.1:g.423173_423178del | |
| NG_011812.2:g.423173_423178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.2962_2967del MANE Select | ENSP00000332549.3:p.Leu988_Asn989del | |
| ENST00000535259.6:c.2491_2496del | ENSP00000441572.3:p.Leu831_Asn832del | |
| ENST00000636273.2:n.2555_2560del | ||
| ENST00000674742.1:c.2491_2496del | ENSP00000502200.1:p.Leu831_Asn832del | |
| ENST00000675398.1:c.*332_*337del | ENSP00000502752.1:n.*332_*337del | |
| ENST00000330684.3:c.2962_2967del | ENSP00000332549.3:p.Leu988_Asn989del | |
| ENST00000396573.6:c.2962_2967del | ENSP00000379818.2:p.Leu988_Asn989del | |
| ENST00000396575.6:c.2551_2556del | ENSP00000379820.3:p.Leu851_Asn852del | |
| ENST00000461292.3:n.2601_2606del | ||
| ENST00000535259.5:c.2551_2556del | ENSP00000441572.2:p.Leu851_Asn852del | |
| ENST00000562109.5:c.2962_2967del | ENSP00000454998.1:p.Leu988_Asn989del | |
| NM_000833.4:c.2962_2967del | NP_000824.1:p.Leu988_Asn989del | |
| NM_001134407.2:c.2962_2967del | NP_001127879.1:p.Leu988_Asn989del | |
| NM_001134408.2:c.2962_2967del | NP_001127880.1:p.Leu988_Asn989del | |
| XM_011522456.1:c.2803_2808del | XP_011520758.1:p.Leu935_Asn936del | |
| XM_011522457.1:c.2704_2709del | XP_011520759.1:p.Leu902_Asn903del | |
| XM_011522458.1:c.2491_2496del | XP_011520760.1:p.Leu831_Asn832del | |
| XM_011522459.1:c.2491_2496del | XP_011520761.1:p.Leu831_Asn832del | |
| XM_011522460.1:c.2491_2496del | XP_011520762.1:p.Leu831_Asn832del | |
| XM_011522461.1:c.2962_2967del | XP_011520763.1:p.Leu988_Asn989del | |
| XM_011522458.3:c.2491_2496del | XP_011520760.1:p.Leu831_Asn832del | |
| XM_011522461.3:c.2962_2967del | XP_011520763.1:p.Leu988_Asn989del | |
| XM_017023172.1:c.3118_3123del | XP_016878661.1:p.Leu1040_Asn1041del | |
| XM_017023173.1:c.3118_3123del | XP_016878662.1:p.Leu1040_Asn1041del | |
| NM_001134407.3:c.2962_2967del MANE Select | NP_001127879.1:p.Leu988_Asn989del | |
| NM_000833.5:c.2962_2967del | NP_000824.1:p.Leu988_Asn989del |