Linked Data
dbSNP Id:
rs767094199
ExAC:
20:44757606 CTT / C
gnomAD v2:
20-44757606-CTT-C
gnomAD v3:
20-46128967-CTT-C
gnomAD v4:
20-46128967-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46128969_46128970del , CM000682.2:g.46128969_46128970del | GRCh38 |
| NC_000020.10:g.44757608_44757609del , CM000682.1:g.44757608_44757609del | GRCh37 |
| NC_000020.9:g.44191015_44191016del | NCBI36 |
| NG_007279.1:g.15703_15704del , LRG_40:g.15703_15704del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477696.6:c.765_766del | ENSP00000512095.1:n.765_766del | |
| ENST00000489304.6:c.846_847del | ENSP00000512096.1:n.846_847del | |
| ENST00000695675.1:n.2639_2640del | ||
| ENST00000372285.8:c.763_764del MANE Select | ENSP00000361359.3:p.Leu255ThrfsTer? | |
| ENST00000372276.7:c.*89_*90del | ENSP00000361350.3:n.*89_*90del | |
| ENST00000372285.7:c.763_764del | ENSP00000361359.3:p.Leu255ThrfsTer? | |
| ENST00000466205.5:c.665_666del | ||
| ENST00000477696.5:n.736_737del | ||
| ENST00000489304.5:n.839_840del | ||
| ENST00000620709.4:c.*310_*311del | ENSP00000484074.1:n.*310_*311del | |
| NM_001250.5:c.763_764del | NP_001241.1:p.Leu255ThrfsTer? | |
| NM_001302753.1:c.*89_*90del | NP_001289682.1:n.*89_*90del | |
| NM_152854.3:c.*89_*90del | NP_690593.1:n.*89_*90del | |
| NR_126502.1:n.856_857del | ||
| XM_005260617.2:c.775_776del | XP_005260674.1:p.Leu259ThrfsTer? | |
| XM_005260619.2:c.619_620del | XP_005260676.1:p.Leu207ThrfsTer? | |
| XR_936660.1:n.763_764del | ||
| NM_001322421.1:c.775_776del | NP_001309350.1:p.Leu259ThrfsTer? | |
| NM_001322422.1:c.607_608del | NP_001309351.1:p.Leu203ThrfsTer? | |
| NM_001362758.1:c.*89_*90del | NP_001349687.1:n.*89_*90del | |
| NR_136327.1:n.759_760del | ||
| XM_005260619.3:c.619_620del | XP_005260676.1:p.Leu207ThrfsTer? | |
| XM_017028135.1:c.798_799del | XP_016883624.1:p.Tyr267HisfsTer23 | |
| XM_017028136.1:c.696_697del | XP_016883625.1:p.Tyr233HisfsTer23 | |
| NM_001250.6:c.763_764del MANE Select | NP_001241.1:p.Leu255ThrfsTer? | |
| NM_001302753.2:c.*89_*90del | NP_001289682.1:n.*89_*90del | |
| NM_001322421.2:c.775_776del | NP_001309350.1:p.Leu259ThrfsTer? | |
| NM_001322422.2:c.607_608del | NP_001309351.1:p.Leu203ThrfsTer? | |
| NM_001362758.2:c.*89_*90del | NP_001349687.1:n.*89_*90del | |
| NM_152854.4:c.*89_*90del | NP_690593.1:n.*89_*90del | |
| NR_126502.2:n.796_797del | ||
| NR_136327.2:n.699_700del |