Linked Data
ClinVar Variation Id:
143974
dbSNP Id:
rs587776425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603594dup , CM000678.2:g.23603594dup | GRCh38 |
| NC_000016.9:g.23614915dup , CM000678.1:g.23614915dup | GRCh37 |
| NC_000016.8:g.23522416dup | NCBI36 |
| NG_007406.1:g.42764dup , LRG_308:g.42764dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3432dup | ENSP00000460666.3:p.Leu1145ThrfsTer14 | |
| ENST00000565038.2:c.*911dup | ENSP00000459882.2:n.*911dup | |
| ENST00000566069.6:c.*61dup | ENSP00000459237.2:n.*61dup | |
| ENST00000697377.2:c.3270dup | ENSP00000513286.2:p.Leu1091ThrfsTer14 | |
| ENST00000697379.2:c.3432dup | ENSP00000513287.2:p.Leu1145ThrfsTer14 | |
| ENST00000561514.2:c.2541dup | ENSP00000460666.2:p.Leu848ThrfsTer14 | |
| ENST00000697374.1:c.2541dup | ENSP00000513284.1:p.Leu848ThrfsTer14 | |
| ENST00000697375.1:n.4773dup | ||
| ENST00000697376.1:c.*61dup | ENSP00000513285.1:n.*61dup | |
| ENST00000697377.1:c.2379dup | ENSP00000513286.1:p.Leu794ThrfsTer14 | |
| ENST00000697378.1:n.3946dup | ||
| ENST00000697379.1:c.2541dup | ENSP00000513287.1:p.Leu848ThrfsTer14 | |
| ENST00000697380.1:n.2630dup | ||
| ENST00000697381.1:n.2121dup | ||
| ENST00000697382.1:c.*203dup | ENSP00000513288.1:n.*203dup | |
| ENST00000697383.1:c.960dup | ENSP00000513289.1:p.Leu321ThrfsTer14 | |
| ENST00000261584.9:c.3426dup MANE Select | ENSP00000261584.4:p.Leu1143ThrfsTer14 | |
| ENST00000261584.8:c.3426dup | ENSP00000261584.4:p.Leu1143ThrfsTer14 | |
| ENST00000566069.5:c.192dup | ||
| ENST00000568219.5:c.2541dup | ENSP00000454703.2:p.Leu848ThrfsTer14 | |
| NM_024675.3:c.3426dup , LRG_308t1:c.3426dup | NP_078951.2:p.Leu1143ThrfsTer14 | |
| XM_011545946.1:c.3432dup | XP_011544248.1:p.Leu1145ThrfsTer14 | |
| XM_011545947.1:c.*61dup | XP_011544249.1:n.*61dup | |
| XM_011545948.1:c.2541dup | XP_011544250.1:p.Leu848ThrfsTer14 | |
| XR_950851.1:n.4134dup | ||
| XM_011545946.2:c.3432dup | XP_011544248.1:p.Leu1145ThrfsTer14 | |
| XM_011545947.2:c.*61dup | XP_011544249.1:n.*61dup | |
| XM_011545948.2:c.2541dup | XP_011544250.1:p.Leu848ThrfsTer14 | |
| XM_017023671.1:c.3195dup | XP_016879160.1:p.Leu1066ThrfsTer14 | |
| XM_017023672.2:c.3189dup | XP_016879161.1:p.Leu1064ThrfsTer14 | |
| XM_017023673.2:c.*61dup | XP_016879162.1:n.*61dup | |
| NM_024675.4:c.3426dup MANE Select | NP_078951.2:p.Leu1143ThrfsTer14 |