Linked Data
ClinVar Variation Id:
960879
ClinVar RCV Id:
RCV001234486
dbSNP Id:
rs772650083
ExAC:
1:76211491 GT / G
gnomAD v2:
1-76211491-GT-G
gnomAD v3:
1-75745806-GT-G
gnomAD v4:
1-75745806-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75745807del , CM000663.2:g.75745807del | GRCh38 |
| NC_000001.10:g.76211492del , CM000663.1:g.76211492del | GRCh37 |
| NC_000001.9:g.75984080del | NCBI36 |
| NG_007045.2:g.26450del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.601del MANE Select | ENSP00000359878.5:p.Tyr201IlefsTer? | |
| ENST00000473018.3:n.2725del | ||
| ENST00000532207.6:n.1490del | ||
| ENST00000541113.6:c.601del | ENSP00000442324.2:p.Tyr201IlefsTer? | |
| ENST00000679509.1:n.1563del | ||
| ENST00000679530.1:c.*369del | ENSP00000506454.1:n.*369del | |
| ENST00000679615.1:n.2724-3612del | ||
| ENST00000679687.1:c.163del | ENSP00000506598.1:p.Tyr55IlefsTer? | |
| ENST00000679704.1:c.*367del | ENSP00000505117.1:n.*367del | |
| ENST00000679709.1:c.*564del | ENSP00000506623.1:n.*564del | |
| ENST00000679976.1:c.*185del | ENSP00000505565.1:n.*185del | |
| ENST00000680166.1:n.3890del | ||
| ENST00000680517.1:c.*97-3612del | ENSP00000505803.1:n.*97-3612del | |
| ENST00000680582.1:n.1563del | ||
| ENST00000680613.1:c.600-28del | ENSP00000506114.1:n.600-28del | |
| ENST00000680662.1:c.*515del | ENSP00000505080.1:n.*515del | |
| ENST00000680691.1:c.*264del | ENSP00000506487.1:n.*264del | |
| ENST00000680694.1:c.*189del | ENSP00000505658.1:n.*189del | |
| ENST00000680743.1:c.*268del | ENSP00000505073.1:n.*268del | |
| ENST00000680749.1:c.600-3612del | ENSP00000505122.1:n.600-3612del | |
| ENST00000680798.1:c.*184-3612del | ENSP00000505670.1:n.*184-3612del | |
| ENST00000680805.1:c.601del | ENSP00000505447.1:p.Tyr201IlefsTer? | |
| ENST00000680844.1:c.*385del | ENSP00000506541.1:n.*385del | |
| ENST00000680948.1:c.*468del | ENSP00000505441.1:n.*468del | |
| ENST00000680964.1:c.601del | ENSP00000505961.1:p.Tyr201IlefsTer? | |
| ENST00000681037.1:c.*2113-28del | ENSP00000506025.1:n.*2113-28del | |
| ENST00000681063.1:c.600-4644del | ENSP00000506616.1:n.600-4644del | |
| ENST00000681209.1:c.*364-3612del | ENSP00000505877.1:n.*364-3612del | |
| ENST00000681278.1:n.958del | ||
| ENST00000681289.1:n.4596del | ||
| ENST00000681361.1:c.*268del | ENSP00000506679.1:n.*268del | |
| ENST00000681430.1:c.601del | ENSP00000506301.1:p.Tyr201IlefsTer? | |
| ENST00000681446.1:c.*183del | ENSP00000506244.1:n.*183del | |
| ENST00000681450.1:c.*272del | ENSP00000505660.1:n.*272del | |
| ENST00000681548.1:c.*187del | ENSP00000505275.1:n.*187del | |
| ENST00000681616.1:c.*368-3612del | ENSP00000505111.1:n.*368-3612del | |
| ENST00000681621.1:c.*185del | ENSP00000505770.1:n.*185del | |
| ENST00000681680.1:n.2724-28del | ||
| ENST00000681720.1:c.*56del | ENSP00000505438.1:n.*56del | |
| ENST00000681730.1:n.823del | ||
| ENST00000681790.1:c.343del | ENSP00000505130.1:p.Tyr115IlefsTer? | |
| ENST00000681837.1:n.1217del | ||
| ENST00000681913.1:n.2725del | ||
| ENST00000681916.1:c.*369del | ENSP00000506477.1:n.*369del | |
| ENST00000681930.1:n.2725del | ||
| ENST00000370834.9:c.700del | ENSP00000359871.5:p.Tyr234IlefsTer? | |
| ENST00000370841.8:c.601del | ENSP00000359878.4:p.Tyr201IlefsTer? | |
| ENST00000420607.6:c.613del | ENSP00000409612.2:p.Tyr205IlefsTer? | |
| ENST00000525808.5:c.*187del | ENSP00000434823.1:n.*187del | |
| ENST00000526129.5:c.*385del | ENSP00000434092.1:n.*385del | |
| ENST00000526196.5:c.*369del | ENSP00000431953.1:n.*369del | |
| ENST00000526930.1:n.374del | ||
| ENST00000529059.5:n.510del | ||
| ENST00000530953.6:c.*98del | ENSP00000431372.1:n.*98del | |
| ENST00000532207.5:n.331del | ||
| ENST00000532509.5:c.*365del | ENSP00000432522.1:n.*365del | |
| ENST00000534334.5:c.*185del | ENSP00000435584.1:n.*185del | |
| ENST00000541113.5:c.493del | ENSP00000442324.1:p.Tyr165IlefsTer? | |
| NM_000016.5:c.601del | NP_000007.1:p.Tyr201IlefsTer? | |
| NM_001127328.2:c.613del | NP_001120800.1:p.Tyr205IlefsTer? | |
| NM_001286042.1:c.493del | NP_001272971.1:p.Tyr165IlefsTer? | |
| NM_001286043.1:c.700del | NP_001272972.1:p.Tyr234IlefsTer? | |
| NM_001286044.1:c.34del | NP_001272973.1:p.Tyr12IlefsTer? | |
| NM_000016.6:c.601del MANE Select | NP_000007.1:p.Tyr201IlefsTer? | |
| NM_001127328.3:c.613del | NP_001120800.1:p.Tyr205IlefsTer? | |
| NM_001286042.2:c.493del | NP_001272971.1:p.Tyr165IlefsTer? | |
| NM_001286043.2:c.700del | NP_001272972.1:p.Tyr234IlefsTer? | |
| NM_001286044.2:c.34del | NP_001272973.1:p.Tyr12IlefsTer? |