Linked Data
ClinVar Variation Id:
204862
ClinVar RCV Id:
RCV000186760
dbSNP Id:
rs796052270
gnomAD v3:
5-126595006-C-CCT
gnomAD v4:
5-126595006-C-CCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126595010_126595011dup , CM000667.2:g.126595010_126595011dup | GRCh38 |
| NC_000005.9:g.125930702_125930703dup , CM000667.1:g.125930702_125930703dup | GRCh37 |
| NC_000005.8:g.125958601_125958602dup | NCBI36 |
| NG_008600.2:g.5383_5384dup | |
| NG_008600.3:g.5383_5384dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.191_192dup MANE Select | ENSP00000387123.3:p.Val65ArgfsTer14 | |
| ENST00000412186.2:c.191_192dup | ENSP00000414536.2:p.Val65ArgfsTer14 | |
| ENST00000413020.6:c.191_192dup | ENSP00000487936.1:p.Val65ArgfsTer14 | |
| ENST00000458249.6:c.191_192dup | ENSP00000403929.1:p.Phe65SerfsTer18 | |
| ENST00000503281.6:c.105_106dup | ||
| ENST00000509270.2:c.191_192dup | ENSP00000449318.2:p.Val65ArgfsTer14 | |
| ENST00000509459.6:c.64_65dup | ||
| ENST00000635851.1:c.189_190dup | ||
| ENST00000635933.1:n.220_221dup | ||
| ENST00000636062.1:n.86_87dup | ||
| ENST00000636190.1:n.70_71dup | ||
| ENST00000636225.1:c.191_192dup | ENSP00000490797.1:p.Gly65ArgfsTer8 | |
| ENST00000636743.1:c.191_192dup | ENSP00000489725.1:p.Ile65ArgfsTer10 | |
| ENST00000636808.1:c.191_192dup | ENSP00000490833.1:p.Gly65ArgfsTer8 | |
| ENST00000636872.1:c.191_192dup | ENSP00000490919.1:p.Phe65SerfsTer18 | |
| ENST00000636879.1:c.191_192dup | ENSP00000490811.1:p.Val65ArgfsTer14 | |
| ENST00000636886.1:c.191_192dup | ENSP00000490371.1:p.Val65ArgfsTer10 | |
| ENST00000637206.1:c.191_192dup | ENSP00000489895.1:p.Val65ArgfsTer14 | |
| ENST00000637272.1:c.191_192dup | ENSP00000489686.1:p.Val65ArgfsTer14 | |
| ENST00000637782.1:c.191_192dup | ENSP00000490024.1:p.Val65ArgfsTer14 | |
| ENST00000637964.1:c.191_192dup | ENSP00000490291.1:p.Ala65ArgfsTer11 | |
| ENST00000638008.1:c.191_192dup | ENSP00000490400.1:p.Gly65ArgfsTer8 | |
| ENST00000409134.7:c.191_192dup | ENSP00000387123.3:p.Val65ArgfsTer14 | |
| ENST00000412186.1:c.191_192dup | ENSP00000414536.1:p.Gly65ArgfsTer8 | |
| ENST00000413020.5:c.191_192dup | ENSP00000487936.1:p.Val65ArgfsTer14 | |
| ENST00000447989.6:c.272_273dup | ENSP00000414132.2:p.Val92ArgfsTer14 | |
| ENST00000458249.5:c.191_192dup | ENSP00000403929.1:p.Phe65SerfsTer18 | |
| ENST00000503281.5:c.105_106dup | ||
| ENST00000509270.1:c.191_192dup | ENSP00000449318.1:p.Ile65ArgfsTer10 | |
| ENST00000509459.5:c.64_65dup | ||
| ENST00000510111.6:c.185_186dup | ENSP00000447388.1:p.Val63ArgfsTer14 | |
| ENST00000511266.5:n.146_147dup | ||
| ENST00000553117.5:c.191_192dup | ENSP00000448593.1:p.Val65ArgfsTer14 | |
| NM_001182.4:c.191_192dup | NP_001173.2:p.Val65ArgfsTer14 | |
| NM_001201377.1:c.107_108dup | NP_001188306.1:p.Val37ArgfsTer14 | |
| NM_001202404.1:c.272_273dup | NP_001189333.1:p.Val92ArgfsTer14 | |
| NM_001182.5:c.191_192dup MANE Select | NP_001173.2:p.Val65ArgfsTer14 | |
| NM_001201377.2:c.107_108dup | NP_001188306.1:p.Val37ArgfsTer14 | |
| NM_001202404.2:c.191_192dup | NP_001189333.2:p.Val65ArgfsTer14 |