Linked Data
ClinVar Variation Id:
420018
dbSNP Id:
rs1064794241
gnomAD v2:
5-125918553-CAAGA-C
gnomAD v3:
5-126582861-CAAGA-C
gnomAD v4:
5-126582861-CAAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582862_126582865del , CM000667.2:g.126582862_126582865del | GRCh38 |
| NC_000005.9:g.125918554_125918557del , CM000667.1:g.125918554_125918557del | GRCh37 |
| NC_000005.8:g.125946453_125946456del | NCBI36 |
| NG_008600.2:g.17526_17529del | |
| NG_008600.3:g.17526_17529del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.503_506del MANE Select | ENSP00000387123.3:p.Ile168SerfsTer10 | |
| ENST00000412186.2:c.393+1067_393+1070del | ENSP00000414536.2:n.393+1067_393+1070del | |
| ENST00000413020.6:c.503_506del | ENSP00000487936.1:p.Ile168SerfsTer10 | |
| ENST00000458249.6:c.*412_*415del | ENSP00000403929.1:n.*412_*415del | |
| ENST00000503281.6:c.107-5654_107-5651del | ||
| ENST00000509270.2:c.437_440del | ENSP00000449318.2:p.Ile146SerfsTer10 | |
| ENST00000509459.6:c.66-5654_66-5651del | ||
| ENST00000511266.6:n.1225_1228del | ||
| ENST00000635851.1:c.501_504del | ||
| ENST00000636062.1:n.398_401del | ||
| ENST00000636190.1:n.382_385del | ||
| ENST00000636225.1:c.*312_*315del | ENSP00000490797.1:n.*312_*315del | |
| ENST00000636286.1:n.221_224del | ||
| ENST00000636743.1:c.383_386del | ENSP00000489725.1:p.Ile128SerfsTer10 | |
| ENST00000636808.1:c.*312_*315del | ENSP00000490833.1:n.*312_*315del | |
| ENST00000636872.1:c.663_666del | ENSP00000490919.1:n.663_666del | |
| ENST00000636879.1:c.503_506del | ENSP00000490811.1:p.Ile168SerfsTer25 | |
| ENST00000636886.1:c.302_305del | ENSP00000490371.1:p.Ile101SerfsTer10 | |
| ENST00000637070.1:n.117_120del | ||
| ENST00000637206.1:c.503_506del | ENSP00000489895.1:p.Ile168SerfsTer10 | |
| ENST00000637272.1:c.503_506del | ENSP00000489686.1:p.Ile168SerfsTer10 | |
| ENST00000637292.1:c.156_159del | ||
| ENST00000637782.1:c.503_506del | ENSP00000490024.1:p.Ile168SerfsTer10 | |
| ENST00000637964.1:c.449_452del | ENSP00000490291.1:p.Ile150SerfsTer10 | |
| ENST00000638008.1:c.*445_*448del | ENSP00000490400.1:n.*445_*448del | |
| ENST00000409134.7:c.503_506del | ENSP00000387123.3:p.Ile168SerfsTer10 | |
| ENST00000413020.5:c.503_506del | ENSP00000487936.1:p.Ile168SerfsTer10 | |
| ENST00000447989.6:c.584_587del | ENSP00000414132.2:p.Ile195SerfsTer10 | |
| ENST00000458249.5:c.663_666del | ENSP00000403929.1:n.663_666del | |
| ENST00000503281.5:c.107-5654_107-5651del | ||
| ENST00000509270.1:c.383_386del | ENSP00000449318.1:p.Ile128SerfsTer10 | |
| ENST00000509459.5:c.66-5654_66-5651del | ||
| ENST00000510111.6:c.416_419del | ENSP00000447388.1:p.Ile139SerfsTer10 | |
| ENST00000511266.5:n.348+1067_348+1070del | ||
| ENST00000553117.5:c.503_506del | ENSP00000448593.1:p.Ile168SerfsTer10 | |
| NM_001182.4:c.503_506del | NP_001173.2:p.Ile168SerfsTer10 | |
| NM_001201377.1:c.419_422del | NP_001188306.1:p.Ile140SerfsTer10 | |
| NM_001202404.1:c.584_587del | NP_001189333.1:p.Ile195SerfsTer10 | |
| XM_011543417.1:c.98_101del | XP_011541719.1:p.Ile33SerfsTer10 | |
| XM_011543417.2:c.98_101del | XP_011541719.1:p.Ile33SerfsTer10 | |
| NM_001182.5:c.503_506del MANE Select | NP_001173.2:p.Ile168SerfsTer10 | |
| NM_001201377.2:c.419_422del | NP_001188306.1:p.Ile140SerfsTer10 | |
| NM_001202404.2:c.503_506del | NP_001189333.2:p.Ile168SerfsTer10 |