Linked Data
ClinVar Variation Id:
650461
ClinVar RCV Id:
RCV000805620
dbSNP Id:
rs1570866192
gnomAD v4:
1-75734798-CTAT-C
MyVariant Identifiers:
chr1:g.76200484_76200486del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75734806_75734808del , CM000663.2:g.75734806_75734808del | GRCh38 |
| NC_000001.10:g.76200491_76200493del , CM000663.1:g.76200491_76200493del | GRCh37 |
| NC_000001.9:g.75973079_75973081del | NCBI36 |
| NG_007045.2:g.15449_15451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.403_405del MANE Select | ENSP00000359878.5:p.Ile135del | |
| ENST00000473018.3:n.2527_2529del | ||
| ENST00000525881.6:n.1365_1367del | ||
| ENST00000541113.6:c.403_405del | ENSP00000442324.2:p.Ile135del | |
| ENST00000679509.1:n.1365_1367del | ||
| ENST00000679530.1:c.*171_*173del | ENSP00000506454.1:n.*171_*173del | |
| ENST00000679615.1:n.2527_2529del | ||
| ENST00000679687.1:c.31-5174_31-5172del | ENSP00000506598.1:n.31-5174_31-5172del | |
| ENST00000679704.1:c.*169_*171del | ENSP00000505117.1:n.*169_*171del | |
| ENST00000679709.1:c.*366_*368del | ENSP00000506623.1:n.*366_*368del | |
| ENST00000679804.1:n.207+1884_207+1886del | ||
| ENST00000679976.1:c.302_304del | ENSP00000505565.1:p.Tyr101del | |
| ENST00000680166.1:n.3692_3694del | ||
| ENST00000680517.1:c.286+1884_286+1886del | ENSP00000505803.1:n.286+1884_286+1886del | |
| ENST00000680582.1:n.1365_1367del | ||
| ENST00000680613.1:c.403_405del | ENSP00000506114.1:p.Ile135del | |
| ENST00000680662.1:c.*317_*319del | ENSP00000505080.1:n.*317_*319del | |
| ENST00000680691.1:c.*66_*68del | ENSP00000506487.1:n.*66_*68del | |
| ENST00000680694.1:c.302_304del | ENSP00000505658.1:p.Tyr101del | |
| ENST00000680743.1:c.*70_*72del | ENSP00000505073.1:n.*70_*72del | |
| ENST00000680749.1:c.403_405del | ENSP00000505122.1:p.Ile135del | |
| ENST00000680798.1:c.302_304del | ENSP00000505670.1:p.Tyr101del | |
| ENST00000680805.1:c.403_405del | ENSP00000505447.1:p.Ile135del | |
| ENST00000680844.1:c.*187_*189del | ENSP00000506541.1:n.*187_*189del | |
| ENST00000680948.1:c.*270_*272del | ENSP00000505441.1:n.*270_*272del | |
| ENST00000680964.1:c.403_405del | ENSP00000505961.1:p.Ile135del | |
| ENST00000681037.1:c.403_405del | ENSP00000506025.1:p.Ile135del | |
| ENST00000681063.1:c.403_405del | ENSP00000506616.1:p.Ile135del | |
| ENST00000681209.1:c.*167_*169del | ENSP00000505877.1:n.*167_*169del | |
| ENST00000681278.1:n.760_762del | ||
| ENST00000681289.1:n.760_762del | ||
| ENST00000681361.1:c.*70_*72del | ENSP00000506679.1:n.*70_*72del | |
| ENST00000681430.1:c.403_405del | ENSP00000506301.1:p.Ile135del | |
| ENST00000681446.1:c.302_304del | ENSP00000506244.1:p.Tyr101del | |
| ENST00000681450.1:c.*70_*72del | ENSP00000505660.1:n.*70_*72del | |
| ENST00000681548.1:c.*54+1884_*54+1886del | ENSP00000505275.1:n.*54+1884_*54+1886del | |
| ENST00000681616.1:c.*171_*173del | ENSP00000505111.1:n.*171_*173del | |
| ENST00000681621.1:c.302_304del | ENSP00000505770.1:p.Tyr101del | |
| ENST00000681680.1:n.2527_2529del | ||
| ENST00000681720.1:c.*54+1884_*54+1886del | ENSP00000505438.1:n.*54+1884_*54+1886del | |
| ENST00000681730.1:n.625_627del | ||
| ENST00000681790.1:c.145_147del | ENSP00000505130.1:p.Ile49del | |
| ENST00000681837.1:n.1019_1021del | ||
| ENST00000681913.1:n.2527_2529del | ||
| ENST00000681916.1:c.*171_*173del | ENSP00000506477.1:n.*171_*173del | |
| ENST00000681930.1:n.2527_2529del | ||
| ENST00000370834.9:c.502_504del | ENSP00000359871.5:p.Ile168del | |
| ENST00000370841.8:c.403_405del | ENSP00000359878.4:p.Ile135del | |
| ENST00000420607.6:c.415_417del | ENSP00000409612.2:p.Ile139del | |
| ENST00000525808.5:c.*54+1884_*54+1886del | ENSP00000434823.1:n.*54+1884_*54+1886del | |
| ENST00000526129.5:c.*187_*189del | ENSP00000434092.1:n.*187_*189del | |
| ENST00000526196.5:c.*171_*173del | ENSP00000431953.1:n.*171_*173del | |
| ENST00000526930.1:n.176_178del | ||
| ENST00000529059.5:n.312_314del | ||
| ENST00000530953.6:c.119-5174_119-5172del | ENSP00000431372.1:n.119-5174_119-5172del | |
| ENST00000532509.5:c.*167_*169del | ENSP00000432522.1:n.*167_*169del | |
| ENST00000534334.5:c.302_304del | ENSP00000435584.1:p.Tyr101del | |
| ENST00000541113.5:c.295_297del | ENSP00000442324.1:p.Ile99del | |
| NM_000016.5:c.403_405del | NP_000007.1:p.Ile135del | |
| NM_001127328.2:c.415_417del | NP_001120800.1:p.Ile139del | |
| NM_001286042.1:c.295_297del | NP_001272971.1:p.Ile99del | |
| NM_001286043.1:c.502_504del | NP_001272972.1:p.Ile168del | |
| NM_001286044.1:c.-100+1884_-100+1886del | NP_001272973.1:n.-100+1884_-100+1886del | |
| NM_000016.6:c.403_405del MANE Select | NP_000007.1:p.Ile135del | |
| NM_001127328.3:c.415_417del | NP_001120800.1:p.Ile139del | |
| NM_001286042.2:c.295_297del | NP_001272971.1:p.Ile99del | |
| NM_001286043.2:c.502_504del | NP_001272972.1:p.Ile168del | |
| NM_001286044.2:c.-100+1884_-100+1886del | NP_001272973.1:n.-100+1884_-100+1886del |