Linked Data
ClinVar Variation Id:
938549
ClinVar RCV Id:
RCV001207792
dbSNP Id:
rs779893062
ExAC:
11:18427044 ACT / A
gnomAD v2:
11-18427044-ACT-A
gnomAD v4:
11-18405497-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18405502_18405503del , CM000673.2:g.18405502_18405503del | GRCh38 |
| NC_000011.9:g.18427049_18427050del , CM000673.1:g.18427049_18427050del | GRCh37 |
| NC_000011.8:g.18383625_18383626del | NCBI36 |
| NG_008185.1:g.16068_16069del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.764_765del MANE Select | ENSP00000395337.3:p.Ser255CysfsTer13 | |
| ENST00000227157.8:c.711-1615_711-1614del | ENSP00000227157.4:n.711-1615_711-1614del | |
| ENST00000375710.7:n.1631_1632del | ||
| ENST00000379412.9:c.764_765del | ENSP00000368722.5:p.Ser255CysfsTer13 | |
| ENST00000396222.6:c.687+1714_687+1715del | ENSP00000379524.2:n.687+1714_687+1715del | |
| ENST00000422447.7:c.764_765del | ENSP00000395337.3:p.Ser255CysfsTer13 | |
| ENST00000430553.6:c.590_591del | ENSP00000406172.2:p.Ser197CysfsTer13 | |
| ENST00000537296.5:n.1439_1440del | ||
| ENST00000538451.1:n.651_652del | ||
| ENST00000540430.5:c.851_852del | ENSP00000445175.1:p.Ser284CysfsTer13 | |
| ENST00000541097.5:c.*102_*103del | ENSP00000443362.1:n.*102_*103del | |
| ENST00000542179.1:c.764_765del | ENSP00000445331.1:p.Ser255CysfsTer13 | |
| ENST00000545215.5:c.*508_*509del | ENSP00000442637.1:n.*508_*509del | |
| NM_001135239.1:c.590_591del | NP_001128711.1:p.Ser197CysfsTer13 | |
| NM_001165414.1:c.851_852del | NP_001158886.1:p.Ser284CysfsTer13 | |
| NM_001165415.1:c.687+1714_687+1715del | NP_001158887.1:n.687+1714_687+1715del | |
| NM_001165416.1:c.711-1615_711-1614del | NP_001158888.1:n.711-1615_711-1614del | |
| NM_005566.3:c.764_765del | NP_005557.1:p.Ser255CysfsTer13 | |
| NR_028500.1:n.918_919del | ||
| NM_005566.4:c.764_765del MANE Select | NP_005557.1:p.Ser255CysfsTer13 | |
| NM_001165415.2:c.687+1714_687+1715del | NP_001158887.1:n.687+1714_687+1715del | |
| NM_001135239.2:c.590_591del | NP_001128711.1:p.Ser197CysfsTer13 | |
| NM_001165414.2:c.851_852del | NP_001158886.1:p.Ser284CysfsTer13 | |
| NM_001165416.2:c.711-1615_711-1614del | NP_001158888.1:n.711-1615_711-1614del | |
| NR_028500.2:n.744_745del |