Linked Data
dbSNP Id:
rs759200828
ExAC:
2:73799672 CAAA / C
gnomAD v2:
2-73799672-CAAA-C
gnomAD v3:
2-73572545-CAAA-C
gnomAD v4:
2-73572545-CAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572546_73572548del , CM000664.2:g.73572546_73572548del | GRCh38 |
| NC_000002.11:g.73799673_73799675del , CM000664.1:g.73799673_73799675del | GRCh37 |
| NC_000002.10:g.73653181_73653183del | NCBI36 |
| NG_011690.1:g.191794_191796del , LRG_741:g.191794_191796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10288_10290del | ENSP00000507671.1:p.Lys3430del | |
| ENST00000682801.1:c.10288_10290del | ENSP00000507862.1:p.Lys3430del | |
| ENST00000682859.1:c.10288_10290del | ENSP00000508222.1:p.Lys3430del | |
| ENST00000683791.1:c.3374_3376del | ||
| ENST00000684460.1:c.7569_7571del | ||
| ENST00000684548.1:c.10288_10290del | ENSP00000507421.1:p.Lys3430del | |
| ENST00000684590.1:c.4735_4737del | ENSP00000507376.1:p.Lys1579del | |
| ENST00000684656.1:c.7614_7616del | ||
| ENST00000613296.6:c.10669_10671del MANE Select | ENSP00000482968.1:p.Lys3557del | |
| ENST00000651057.1:c.823_825del | ENSP00000498504.1:p.Lys275del | |
| ENST00000651434.1:c.2025_2027del | ||
| ENST00000651750.1:c.57_59del | ||
| ENST00000652487.1:c.1766_1768del | ||
| ENST00000423048.5:c.4160_4162del | ENSP00000399833.1:n.4160_4162del | |
| ENST00000484298.5:c.10543_10545del | ENSP00000478155.1:p.Lys3515del | |
| ENST00000613296.4:c.10669_10671del | ENSP00000482968.1:p.Lys3557del | |
| ENST00000614410.4:c.10669_10671del | ENSP00000479094.1:p.Lys3557del | |
| ENST00000620466.4:n.4472_4474del | ||
| NM_015120.4:c.10672_10674del , LRG_741t1:c.10672_10674del | NP_055935.4:p.Lys3558del | |
| NM_001378454.1:c.10669_10671del MANE Select | NP_001365383.1:p.Lys3557del |