Linked Data
dbSNP Id:
rs1644255482
gnomAD v3:
1-11796348-TGCTTCAGGTCAGCCTCAAA-T
gnomAD v4:
1-11796348-TGCTTCAGGTCAGCCTCAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796352_11796370del , CM000663.2:g.11796352_11796370del | GRCh38 |
| NC_000001.10:g.11856409_11856427del , CM000663.1:g.11856409_11856427del | GRCh37 |
| NC_000001.9:g.11778996_11779014del | NCBI36 |
| NG_013351.1:g.14737_14755del , LRG_726:g.14737_14755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.619_637del | ENSP00000365669.3:p.Phe207ThrfsTer2 | |
| ENST00000376585.6:c.742_760del | ENSP00000365770.1:p.Phe248ThrfsTer2 | |
| ENST00000376590.9:c.619_637del MANE Select | ENSP00000365775.3:p.Phe207ThrfsTer2 | |
| ENST00000376592.6:c.619_637del | ENSP00000365777.1:p.Phe207ThrfsTer2 | |
| ENST00000423400.7:c.739_757del | ENSP00000398908.3:p.Phe247ThrfsTer2 | |
| ENST00000641407.1:c.619_637del | ENSP00000493098.1:p.Phe207ThrfsTer2 | |
| ENST00000641446.1:c.619_637del | ENSP00000493262.1:p.Phe207ThrfsTer2 | |
| ENST00000641721.1:n.644-1019_644-1001del | ||
| ENST00000641747.1:c.*131_*149del | ENSP00000493116.1:n.*131_*149del | |
| ENST00000641759.1:n.754_772del | ||
| ENST00000641805.1:n.902_920del | ||
| ENST00000641820.1:c.-117_-99del | ENSP00000492937.1:n.-117_-99del | |
| ENST00000376583.7:c.742_760del | ENSP00000365767.3:p.Phe248ThrfsTer2 | |
| ENST00000376585.5:c.742_760del | ENSP00000365770.1:p.Phe248ThrfsTer2 | |
| ENST00000376590.7:c.619_637del | ENSP00000365775.3:p.Phe207ThrfsTer2 | |
| ENST00000376592.5:c.619_637del | ENSP00000365777.1:p.Phe207ThrfsTer2 | |
| NM_005957.4:c.619_637del , LRG_726t1:c.619_637del | NP_005948.3:p.Phe207ThrfsTer2 | |
| XM_005263458.2:c.742_760del | XP_005263515.1:p.Phe248ThrfsTer2 | |
| XM_005263460.3:c.619_637del | XP_005263517.1:p.Phe207ThrfsTer2 | |
| XM_005263461.3:c.619_637del | XP_005263518.1:p.Phe207ThrfsTer2 | |
| XM_005263462.3:c.619_637del | XP_005263519.1:p.Phe207ThrfsTer2 | |
| XM_005263463.2:c.373_391del | XP_005263520.1:p.Phe125ThrfsTer2 | |
| XM_011541495.1:c.739_757del | XP_011539797.1:p.Phe247ThrfsTer2 | |
| XM_011541496.1:c.742_760del | XP_011539798.1:p.Phe248ThrfsTer2 | |
| NM_001330358.1:c.742_760del | NP_001317287.1:p.Phe248ThrfsTer2 | |
| XM_005263460.5:c.619_637del | XP_005263517.1:p.Phe207ThrfsTer2 | |
| XM_005263462.4:c.619_637del | XP_005263519.1:p.Phe207ThrfsTer2 | |
| XM_005263463.4:c.373_391del | XP_005263520.1:p.Phe125ThrfsTer2 | |
| XM_011541495.3:c.739_757del | XP_011539797.1:p.Phe247ThrfsTer2 | |
| XM_011541496.3:c.742_760del | XP_011539798.1:p.Phe248ThrfsTer2 | |
| XM_017001328.2:c.742_760del | XP_016856817.1:p.Phe248ThrfsTer2 | |
| XM_024447198.1:c.373_391del | XP_024302966.1:p.Phe125ThrfsTer2 | |
| XR_002956640.1:n.1486_1504del | ||
| NM_005957.5:c.619_637del MANE Select | NP_005948.3:p.Phe207ThrfsTer2 | |
| NM_001330358.2:c.742_760del | NP_001317287.1:p.Phe248ThrfsTer2 |