Linked Data
ClinVar Variation Id:
265701
dbSNP Id:
rs886039744
gnomAD v2:
11-44129346-CCT-C
gnomAD v3:
11-44107796-CCT-C
gnomAD v4:
11-44107796-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44107799_44107800del , CM000673.2:g.44107799_44107800del | GRCh38 |
| NC_000011.9:g.44129349_44129350del , CM000673.1:g.44129349_44129350del | GRCh37 |
| NC_000011.8:g.44085925_44085926del | NCBI36 |
| NG_007560.1:g.17251_17252del , LRG_494:g.17251_17252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.87_88del | ENSP00000342656.3:p.Phe30LeufsTer25 | |
| ENST00000395673.8:c.87_88del | ENSP00000379032.4:p.Phe30LeufsTer25 | |
| ENST00000531161.6:n.246_247del | ||
| ENST00000682359.1:c.87_88del | ENSP00000508226.1:p.Phe30LeufsTer25 | |
| ENST00000682711.1:c.-544+11947_-544+11948del | ENSP00000506803.1:n.-544+11947_-544+11948del | |
| ENST00000682815.1:c.87_88del | ENSP00000507234.1:p.Phe30LeufsTer25 | |
| ENST00000682947.1:n.261_262del | ||
| ENST00000682993.1:c.87_88del | ENSP00000507580.1:p.Phe30LeufsTer25 | |
| ENST00000683000.1:c.87_88del | ENSP00000508361.1:p.Phe30LeufsTer25 | |
| ENST00000683299.1:n.504_505del | ||
| ENST00000683870.1:c.87_88del | ENSP00000507922.1:p.Phe30LeufsTer25 | |
| ENST00000683881.1:n.2648_2649del | ||
| ENST00000684039.1:c.87_88del | ENSP00000507677.1:p.Phe30LeufsTer25 | |
| ENST00000684124.1:c.87_88del | ENSP00000508332.1:p.Phe30LeufsTer25 | |
| ENST00000684533.1:c.87_88del | ENSP00000507915.1:p.Phe30LeufsTer25 | |
| ENST00000533608.7:c.87_88del MANE Select | ENSP00000431173.2:p.Phe30LeufsTer25 | |
| ENST00000343631.3:c.87_88del | ENSP00000342656.3:p.Phe30LeufsTer25 | |
| ENST00000358681.8:c.87_88del | ENSP00000351509.4:p.Phe30LeufsTer25 | |
| ENST00000395673.7:c.186_187del | ENSP00000379032.3:p.Phe63LeufsTer25 | |
| ENST00000527014.1:c.87_88del | ENSP00000434716.1:p.Phe30LeufsTer25 | |
| ENST00000532479.1:c.87_88del | ENSP00000433827.1:p.Phe30LeufsTer? | |
| ENST00000533608.5:c.87_88del | ENSP00000431173.1:p.Phe30LeufsTer25 | |
| NM_000401.3:c.186_187del , LRG_494t1:c.186_187del | NP_000392.3:p.Phe63LeufsTer25 | |
| NM_001178083.1:c.87_88del | NP_001171554.1:p.Phe30LeufsTer25 | |
| NM_207122.1:c.87_88del , LRG_494t2:c.87_88del | NP_997005.1:p.Phe30LeufsTer25 | |
| XM_011519950.1:c.225_226del | XP_011518252.1:p.Phe76LeufsTer25 | |
| XM_011519951.1:c.126_127del | XP_011518253.1:p.Phe43LeufsTer25 | |
| XM_024448383.1:c.225_226del | XP_024304151.1:p.Phe76LeufsTer25 | |
| NM_001178083.2:c.87_88del | NP_001171554.1:p.Phe30LeufsTer25 | |
| NM_207122.2:c.87_88del MANE Select | NP_997005.1:p.Phe30LeufsTer25 | |
| NM_001178083.3:c.87_88del | NP_001171554.1:p.Phe30LeufsTer25 | |
| NM_001389628.1:c.87_88del | NP_001376557.1:p.Phe30LeufsTer25 | |
| NM_001389630.1:c.87_88del | NP_001376559.1:p.Phe30LeufsTer25 |