Linked Data
ClinVar Variation Id:
523490
dbSNP Id:
rs1555339028
gnomAD v4:
14-24081483-T-TCGTCGCGCCCGCAGCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081485_24081503dup , CM000676.2:g.24081485_24081503dup | GRCh38 |
| NC_000014.8:g.24550694_24550712dup , CM000676.1:g.24550694_24550712dup | GRCh37 |
| NC_000014.7:g.23620534_23620552dup | NCBI36 |
| NG_011697.1:g.8122_8140dup | |
| NG_011697.2:g.38513_38531dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.448_466dup MANE Select | ENSP00000454062.2:p.Glu156AlafsTer? | |
| ENST00000396995.1:c.31_49dup | ENSP00000380191.1:p.Glu17AlafsTer? | |
| ENST00000396997.1:c.448_466dup | ENSP00000380193.1:p.Glu156AlafsTer? | |
| ENST00000397002.6:c.448_466dup | ENSP00000380197.2:p.Glu156AlafsTer? | |
| ENST00000560550.1:c.31_49dup | ENSP00000452966.1:p.Glu17AlafsTer? | |
| ENST00000561028.5:c.448_466dup | ENSP00000454062.1:p.Glu156AlafsTer? | |
| NM_006177.3:c.448_466dup | NP_006168.1:p.Glu156AlafsTer? | |
| XM_005267708.3:c.448_466dup | XP_005267765.1:p.Glu156AlafsTer? | |
| XM_005267709.3:c.448_466dup | XP_005267766.1:p.Glu156AlafsTer? | |
| XM_005267710.3:c.448_466dup | XP_005267767.1:p.Glu156AlafsTer? | |
| XM_011536801.1:c.547_565dup | XP_011535103.1:p.Glu189AlafsTer? | |
| XM_011536802.1:c.448_466dup | XP_011535104.1:p.Glu156AlafsTer? | |
| XM_011536803.1:c.448_466dup | XP_011535105.1:p.Glu156AlafsTer? | |
| XM_011536804.1:c.448_466dup | XP_011535106.1:p.Glu156AlafsTer? | |
| XM_011536805.1:c.448_466dup | XP_011535107.1:p.Glu156AlafsTer? | |
| XM_011536806.1:c.232_250dup | XP_011535108.1:p.Glu84AlafsTer? | |
| NM_001354768.1:c.448_466dup | NP_001341697.1:p.Glu156AlafsTer? | |
| NM_001354769.1:c.448_466dup | NP_001341698.1:p.Glu156AlafsTer? | |
| NM_001354770.1:c.133_151dup | NP_001341699.1:p.Glu51AlafsTer? | |
| NM_006177.4:c.448_466dup | NP_006168.1:p.Glu156AlafsTer? | |
| XM_011536801.2:c.754_772dup | XP_011535103.2:p.Glu258AlafsTer? | |
| XM_011536804.2:c.448_466dup | XP_011535106.1:p.Glu156AlafsTer? | |
| XM_011536805.2:c.448_466dup | XP_011535107.1:p.Glu156AlafsTer? | |
| XM_011536806.2:c.439_457dup | XP_011535108.2:p.Glu153AlafsTer? | |
| NM_001354768.3:c.448_466dup MANE Select | NP_001341697.1:p.Glu156AlafsTer? | |
| NM_001354770.2:c.133_151dup | NP_001341699.1:p.Glu51AlafsTer? | |
| NM_006177.5:c.448_466dup | NP_006168.1:p.Glu156AlafsTer? |