Linked Data
ClinVar Variation Id:
280737
ClinVar RCV Id:
RCV000404110
dbSNP Id:
rs771222229
ExAC:
12:109921758 TC / T
gnomAD v2:
12-109921758-TC-T
gnomAD v3:
12-109483953-TC-T
gnomAD v4:
12-109483953-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109483955del , CM000674.2:g.109483955del | GRCh38 |
| NC_000012.11:g.109921760del , CM000674.1:g.109921760del | GRCh37 |
| NC_000012.10:g.108406143del | NCBI36 |
| NG_033898.1:g.11333del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342494.8:c.256del MANE Select | ENSP00000340596.3:p.Leu86TyrfsTer19 | |
| ENST00000340074.9:c.256del | ENSP00000342614.5:p.Leu86TyrfsTer19 | |
| ENST00000342494.7:c.256del | ENSP00000340596.3:p.Leu86TyrfsTer19 | |
| ENST00000434735.6:c.256del | ENSP00000391529.2:p.Leu86TyrfsTer19 | |
| ENST00000449510.6:c.256del | ENSP00000395802.2:p.Leu86TyrfsTer19 | |
| ENST00000536398.5:c.256del | ENSP00000440585.1:p.Leu86TyrfsTer19 | |
| ENST00000537063.1:c.256del | ENSP00000437694.1:p.Leu86TyrfsTer19 | |
| ENST00000539599.5:c.256del | ENSP00000443131.1:p.Leu86TyrfsTer19 | |
| ENST00000539843.5:n.520del | ||
| ENST00000540230.5:c.256del | ENSP00000443565.1:p.Leu86TyrfsTer19 | |
| NM_001270449.1:c.256del | NP_001257378.1:p.Leu86TyrfsTer19 | |
| NM_001270450.1:c.256del | NP_001257379.1:p.Leu86TyrfsTer19 | |
| NM_001270451.1:c.256del | NP_001257380.1:p.Leu86TyrfsTer19 | |
| NM_130466.3:c.256del | NP_569733.2:p.Leu86TyrfsTer19 | |
| NM_183415.2:c.256del | NP_904324.1:p.Leu86TyrfsTer19 | |
| XM_005253987.1:c.256del | XP_005254044.1:p.Leu86TyrfsTer19 | |
| XM_006719681.2:c.256del | XP_006719744.1:p.Leu86TyrfsTer19 | |
| XM_006719682.1:c.256del | XP_006719745.1:p.Leu86TyrfsTer19 | |
| XM_011538959.1:c.256del | XP_011537261.1:p.Leu86TyrfsTer19 | |
| XM_011538960.1:c.256del | XP_011537262.1:p.Leu86TyrfsTer19 | |
| XM_011538961.1:c.256del | XP_011537263.1:p.Leu86TyrfsTer19 | |
| XM_011538962.1:c.256del | XP_011537264.1:p.Leu86TyrfsTer19 | |
| XR_429118.2:n.1083del | ||
| XR_429119.2:n.1083del | ||
| XM_005253987.2:c.256del | XP_005254044.1:p.Leu86TyrfsTer19 | |
| XM_006719681.3:c.256del | XP_006719744.1:p.Leu86TyrfsTer19 | |
| XM_006719682.2:c.256del | XP_006719745.1:p.Leu86TyrfsTer19 | |
| XM_011538959.2:c.256del | XP_011537261.1:p.Leu86TyrfsTer19 | |
| XM_017020195.1:c.-879del | XP_016875684.1:n.-879del | |
| XM_017020196.1:c.256del | XP_016875685.1:p.Leu86TyrfsTer19 | |
| XM_024449269.1:c.-879del | XP_024305037.1:n.-879del | |
| XR_429118.3:n.1083del | ||
| XR_429119.4:n.1083del | ||
| NM_130466.4:c.256del MANE Select | NP_569733.2:p.Leu86TyrfsTer19 | |
| NM_183415.3:c.256del | NP_904324.1:p.Leu86TyrfsTer19 | |
| NM_001270449.2:c.256del | NP_001257378.1:p.Leu86TyrfsTer19 | |
| NM_001270450.2:c.256del | NP_001257379.1:p.Leu86TyrfsTer19 | |
| NM_001270451.2:c.256del | NP_001257380.1:p.Leu86TyrfsTer19 |