Linked Data
dbSNP Id:
rs773347553
gnomAD v2:
17-73517942-TCTGGGGTCC-T
gnomAD v3:
17-75521861-TCTGGGGTCC-T
gnomAD v4:
17-75521861-TCTGGGGTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521867_75521875del , CM000679.2:g.75521867_75521875del | GRCh38 |
| NC_000017.10:g.73517948_73517956del , CM000679.1:g.73517948_73517956del | GRCh37 |
| NC_000017.9:g.71029543_71029551del | NCBI36 |
| NG_013041.1:g.10340_10348del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.786_794del MANE Select | ENSP00000327487.6:p.Ser263_Gly265del | |
| ENST00000434205.8:c.483_491del | ENSP00000406559.4:p.Ser162_Gly164del | |
| ENST00000545228.3:c.786_794del | ENSP00000438169.3:p.Ser263_Gly265del | |
| ENST00000579449.2:n.585_593del | ||
| ENST00000580013.6:n.989_997del | ||
| ENST00000583818.2:c.840_848del | ENSP00000461928.2:n.840_848del | |
| ENST00000679370.1:n.1367_1375del | ||
| ENST00000679429.1:c.*244_*252del | ENSP00000505403.1:n.*244_*252del | |
| ENST00000679443.1:n.855_863del | ||
| ENST00000679782.1:c.786_794del | ENSP00000505995.1:p.Ser263_Gly265del | |
| ENST00000679919.1:n.855_863del | ||
| ENST00000679928.1:c.*397_*405del | ENSP00000506071.1:n.*397_*405del | |
| ENST00000680528.1:n.811_819del | ||
| ENST00000680999.1:c.786_794del | ENSP00000504984.1:p.Ser263_Gly265del | |
| ENST00000681282.1:c.*32_*40del | ENSP00000506339.1:n.*32_*40del | |
| ENST00000333213.10:c.786_794del | ENSP00000327487.6:p.Ser263_Gly265del | |
| ENST00000578415.1:c.746_754del | ||
| ENST00000583173.5:c.459-140_459-132del | ENSP00000463619.1:n.459-140_459-132del | |
| ENST00000583818.1:c.735_743del | ENSP00000461928.1:n.735_743del | |
| NM_207346.2:c.786_794del | NP_997229.2:p.Ser263_Gly265del | |
| XM_005257229.2:c.786_794del | XP_005257286.1:p.Ser263_Gly265del | |
| XM_006721821.2:c.483_491del | XP_006721884.1:p.Ser162_Gly164del | |
| XM_011524616.1:c.786_794del | XP_011522918.1:p.Ser263_Gly265del | |
| XM_011524617.1:c.786_794del | XP_011522919.1:p.Ser263_Gly265del | |
| XM_011524618.1:c.786_794del | XP_011522920.1:p.Ser263_Gly265del | |
| XR_243646.2:n.816_824del | ||
| XM_005257229.4:c.786_794del | XP_005257286.1:p.Ser263_Gly265del | |
| XR_243646.4:n.822_830del | ||
| NM_207346.3:c.786_794del MANE Select | NP_997229.2:p.Ser263_Gly265del |