Linked Data
ClinVar Variation Id:
2201398
ClinVar RCV Id:
RCV002629636
dbSNP Id:
rs759041992
ExAC:
1:76227071 AT / A
gnomAD v2:
1-76227071-AT-A
gnomAD v3:
1-75761386-AT-A
gnomAD v4:
1-75761386-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761393del , CM000663.2:g.75761393del | GRCh38 |
| NC_000001.10:g.76227078del , CM000663.1:g.76227078del | GRCh37 |
| NC_000001.9:g.75999666del | NCBI36 |
| NG_007045.2:g.42036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1194+23del MANE Select | ENSP00000359878.5:n.1194+23del | |
| ENST00000473018.3:n.3318+23del | ||
| ENST00000532207.6:n.2228del | ||
| ENST00000541113.6:c.1098+23del | ENSP00000442324.2:n.1098+23del | |
| ENST00000679509.1:n.2179del | ||
| ENST00000679530.1:c.*962+23del | ENSP00000506454.1:n.*962+23del | |
| ENST00000679615.1:n.3232del | ||
| ENST00000679687.1:c.756+23del | ENSP00000506598.1:n.756+23del | |
| ENST00000679704.1:c.*960+23del | ENSP00000505117.1:n.*960+23del | |
| ENST00000679709.1:c.*1157+23del | ENSP00000506623.1:n.*1157+23del | |
| ENST00000679976.1:c.*778+23del | ENSP00000505565.1:n.*778+23del | |
| ENST00000680166.1:n.4483+23del | ||
| ENST00000680315.1:n.1100del | ||
| ENST00000680517.1:c.*605del | ENSP00000505803.1:n.*605del | |
| ENST00000680582.1:n.2156+23del | ||
| ENST00000680613.1:c.*687+23del | ENSP00000506114.1:n.*687+23del | |
| ENST00000680662.1:c.*1108+23del | ENSP00000505080.1:n.*1108+23del | |
| ENST00000680691.1:c.*857+23del | ENSP00000506487.1:n.*857+23del | |
| ENST00000680694.1:c.*782+23del | ENSP00000505658.1:n.*782+23del | |
| ENST00000680743.1:c.*983+23del | ENSP00000505073.1:n.*983+23del | |
| ENST00000680749.1:c.*479+23del | ENSP00000505122.1:n.*479+23del | |
| ENST00000680798.1:c.*692del | ENSP00000505670.1:n.*692del | |
| ENST00000680805.1:c.1053+23del | ENSP00000505447.1:n.1053+23del | |
| ENST00000680844.1:c.*1001del | ENSP00000506541.1:n.*1001del | |
| ENST00000680948.1:c.*1061+23del | ENSP00000505441.1:n.*1061+23del | |
| ENST00000680964.1:c.*310del | ENSP00000505961.1:n.*310del | |
| ENST00000681037.1:c.*2678+23del | ENSP00000506025.1:n.*2678+23del | |
| ENST00000681063.1:c.*463+23del | ENSP00000506616.1:n.*463+23del | |
| ENST00000681209.1:c.*849+23del | ENSP00000505877.1:n.*849+23del | |
| ENST00000681278.1:n.1896+23del | ||
| ENST00000681289.1:n.5189+23del | ||
| ENST00000681361.1:c.*884del | ENSP00000506679.1:n.*884del | |
| ENST00000681430.1:c.*287+23del | ENSP00000506301.1:n.*287+23del | |
| ENST00000681446.1:c.*921del | ENSP00000506244.1:n.*921del | |
| ENST00000681450.1:c.*865+23del | ENSP00000505660.1:n.*865+23del | |
| ENST00000681548.1:c.*803del | ENSP00000505275.1:n.*803del | |
| ENST00000681616.1:c.*876del | ENSP00000505111.1:n.*876del | |
| ENST00000681621.1:c.*801del | ENSP00000505770.1:n.*801del | |
| ENST00000681680.1:n.3312del | ||
| ENST00000681720.1:c.*649+23del | ENSP00000505438.1:n.*649+23del | |
| ENST00000681730.1:n.1416+23del | ||
| ENST00000681790.1:c.936+23del | ENSP00000505130.1:n.936+23del | |
| ENST00000681837.1:n.1833del | ||
| ENST00000681913.1:n.3440+23del | ||
| ENST00000681916.1:c.*962+23del | ENSP00000506477.1:n.*962+23del | |
| ENST00000681930.1:n.3341del | ||
| ENST00000370834.9:c.1293+23del | ENSP00000359871.5:n.1293+23del | |
| ENST00000370841.8:c.1194+23del | ENSP00000359878.4:n.1194+23del | |
| ENST00000420607.6:c.1206+23del | ENSP00000409612.2:n.1206+23del | |
| ENST00000481374.1:n.467+23del | ||
| ENST00000525808.5:c.*780+23del | ENSP00000434823.1:n.*780+23del | |
| ENST00000526129.5:c.*1001del | ENSP00000434092.1:n.*1001del | |
| ENST00000526196.5:c.*962+23del | ENSP00000431953.1:n.*962+23del | |
| ENST00000528016.1:c.160-7784del | ENSP00000434284.1:n.160-7784del | |
| ENST00000529059.5:n.1103+23del | ||
| ENST00000541113.5:c.1086+23del | ENSP00000442324.1:n.1086+23del | |
| NM_000016.5:c.1194+23del | NP_000007.1:n.1194+23del | |
| NM_001127328.2:c.1206+23del | NP_001120800.1:n.1206+23del | |
| NM_001286042.1:c.1086+23del | NP_001272971.1:n.1086+23del | |
| NM_001286043.1:c.1293+23del | NP_001272972.1:n.1293+23del | |
| NM_001286044.1:c.627+23del | NP_001272973.1:n.627+23del | |
| NM_000016.6:c.1194+23del MANE Select | NP_000007.1:n.1194+23del | |
| NM_001127328.3:c.1206+23del | NP_001120800.1:n.1206+23del | |
| NM_001286042.2:c.1086+23del | NP_001272971.1:n.1086+23del | |
| NM_001286043.2:c.1293+23del | NP_001272972.1:n.1293+23del | |
| NM_001286044.2:c.627+23del | NP_001272973.1:n.627+23del |