Linked Data
ClinVar Variation Id:
225895
ClinVar RCV Id:
RCV000211102
dbSNP Id:
rs875989804
PubMed:
PMID:27159028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49075414del , CM000685.2:g.49075414del | GRCh38 |
| NC_000023.10:g.48933073del , CM000685.1:g.48933073del | GRCh37 |
| NC_000023.9:g.48820017del | NCBI36 |
| NG_033004.1:g.29987del | |
| NG_033004.2:g.30757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.777del MANE Select | ENSP00000365551.3:p.Thr260LeufsTer27 | |
| ENST00000322995.13:c.810del | ENSP00000365543.5:p.Thr271LeufsTer27 | |
| ENST00000356463.7:c.780del | ENSP00000348848.3:p.Thr261LeufsTer27 | |
| ENST00000367375.8:c.556del | ||
| ENST00000376358.4:c.471del | ENSP00000365536.3:p.Thr158LeufsTer26 | |
| ENST00000376368.7:c.780del | ENSP00000365546.2:p.Thr261LeufsTer27 | |
| ENST00000376372.8:c.777del | ENSP00000365551.3:p.Thr260LeufsTer27 | |
| ENST00000396681.9:c.660del | ENSP00000379913.5:p.Thr221LeufsTer27 | |
| ENST00000433252.7:n.351del | ||
| ENST00000465806.6:n.1934del | ||
| ENST00000473974.5:c.725+131del | ENSP00000417211.1:n.725+131del | |
| ENST00000475880.6:c.675del | ENSP00000418919.2:p.Thr226LeufsTer? | |
| ENST00000475977.2:c.273del | ENSP00000417754.2:p.Thr92LeufsTer? | |
| ENST00000480412.2:n.382del | ||
| ENST00000485908.6:c.672del | ENSP00000419897.1:p.Thr225LeufsTer27 | |
| ENST00000634559.1:c.564del | ENSP00000488986.1:p.Thr189LeufsTer27 | |
| ENST00000634736.1:c.471del | ENSP00000489561.1:p.Thr158LeufsTer27 | |
| ENST00000634838.1:c.735del | ENSP00000489268.1:p.Thr246LeufsTer27 | |
| ENST00000634852.1:n.474del | ||
| ENST00000634944.1:c.777del | ENSP00000488972.1:p.Thr260LeufsTer27 | |
| ENST00000635003.1:c.576del | ENSP00000489080.1:p.Thr193LeufsTer27 | |
| ENST00000635344.1:c.*428del | ENSP00000489553.1:n.*428del | |
| ENST00000635666.1:c.705del | ENSP00000489128.1:p.Thr236LeufsTer? | |
| NM_001029896.1:c.777del | NP_001025067.1:p.Thr260LeufsTer27 | |
| NM_007075.3:c.780del | NP_009006.2:p.Thr261LeufsTer27 | |
| NM_001029896.2:c.777del MANE Select | NP_001025067.1:p.Thr260LeufsTer27 | |
| NM_007075.4:c.780del | NP_009006.2:p.Thr261LeufsTer27 |