Linked Data
ClinVar Variation Id:
375600
ClinVar RCV Id:
RCV000417084
dbSNP Id:
rs1057519428
PubMed:
PMID:28295041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4944796dup , CM000679.2:g.4944796dup | GRCh38 |
| NC_000017.10:g.4848091dup , CM000679.1:g.4848091dup | GRCh37 |
| NC_000017.9:g.4788836dup | NCBI36 |
| NG_012063.2:g.3706dup | |
| NG_032945.1:g.9294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262482.11:c.833dup MANE Select | ENSP00000262482.6:p.Pro279SerfsTer17 | |
| ENST00000262482.10:c.833dup | ENSP00000262482.6:p.Pro279SerfsTer17 | |
| ENST00000571816.5:c.833dup | ENSP00000459324.1:p.Pro279SerfsTer17 | |
| ENST00000572382.5:c.576dup | ENSP00000460024.1:p.Ser193ValfsTer? | |
| ENST00000572430.5:c.833dup | ENSP00000458794.1:p.Pro279SerfsTer17 | |
| ENST00000574548.1:n.341dup | ||
| ENST00000575111.5:c.833dup | ENSP00000460190.1:p.Pro279SerfsTer17 | |
| ENST00000575400.5:c.*150dup | ENSP00000460991.1:n.*150dup | |
| ENST00000575524.1:n.615dup | ||
| ENST00000576229.5:c.728dup | ENSP00000458189.1:p.Pro244SerfsTer17 | |
| ENST00000576965.1:c.173dup | ||
| NM_015528.1:c.833dup | NP_056343.1:p.Pro279SerfsTer17 | |
| XM_005256599.1:c.833dup | XP_005256656.1:p.Pro279SerfsTer17 | |
| XM_005256603.2:c.728dup | XP_005256660.1:p.Pro244SerfsTer17 | |
| XM_011523787.1:c.833dup | XP_011522089.1:p.Pro279SerfsTer17 | |
| XM_011523788.1:c.833dup | XP_011522090.1:p.Pro279SerfsTer17 | |
| XM_011523789.1:c.833dup | XP_011522091.1:p.Pro279SerfsTer17 | |
| XM_011523790.1:c.833dup | XP_011522092.1:p.Pro279SerfsTer17 | |
| XM_011523791.1:c.728dup | XP_011522093.1:p.Pro244SerfsTer17 | |
| XM_011523792.1:c.728dup | XP_011522094.1:p.Pro244SerfsTer17 | |
| NM_001320356.1:c.833dup | NP_001307285.1:p.Pro279SerfsTer17 | |
| NM_001320357.1:c.833dup | NP_001307286.1:p.Pro279SerfsTer17 | |
| NM_001320358.1:c.833dup | NP_001307287.1:p.Pro279SerfsTer17 | |
| NM_001320359.1:c.833dup | NP_001307288.1:p.Pro279SerfsTer17 | |
| NM_001320360.1:c.833dup | NP_001307289.1:p.Pro279SerfsTer17 | |
| NM_001320361.1:c.833dup | NP_001307290.1:p.Pro279SerfsTer17 | |
| NM_001320362.1:c.728dup | NP_001307291.1:p.Pro244SerfsTer17 | |
| NM_001320363.1:c.728dup | NP_001307292.1:p.Pro244SerfsTer17 | |
| NM_001320364.1:c.728dup | NP_001307293.1:p.Pro244SerfsTer17 | |
| NM_001320365.1:c.728dup | NP_001307294.1:p.Pro244SerfsTer17 | |
| NM_015528.2:c.833dup | NP_056343.1:p.Pro279SerfsTer17 | |
| XM_017024427.2:c.833dup | XP_016879916.1:p.Pro279SerfsTer17 | |
| XM_017024428.2:c.464dup | XP_016879917.1:p.Pro156SerfsTer17 | |
| NM_001320356.2:c.833dup | NP_001307285.1:p.Pro279SerfsTer17 | |
| NM_001320357.2:c.833dup | NP_001307286.1:p.Pro279SerfsTer17 | |
| NM_001320358.2:c.833dup | NP_001307287.1:p.Pro279SerfsTer17 | |
| NM_001320359.2:c.833dup | NP_001307288.1:p.Pro279SerfsTer17 | |
| NM_001320360.2:c.833dup | NP_001307289.1:p.Pro279SerfsTer17 | |
| NM_001320361.2:c.833dup | NP_001307290.1:p.Pro279SerfsTer17 | |
| NM_001320362.2:c.728dup | NP_001307291.1:p.Pro244SerfsTer17 | |
| NM_001320363.2:c.728dup | NP_001307292.1:p.Pro244SerfsTer17 | |
| NM_001320364.2:c.728dup | NP_001307293.1:p.Pro244SerfsTer17 | |
| NM_001320365.2:c.728dup | NP_001307294.1:p.Pro244SerfsTer17 | |
| NM_001370303.1:c.905dup | NP_001357232.1:p.Pro303SerfsTer17 | |
| NM_001370304.1:c.905dup | NP_001357233.1:p.Pro303SerfsTer17 | |
| NM_001370305.1:c.833dup | NP_001357234.1:p.Pro279SerfsTer17 | |
| NM_001370306.1:c.830dup | NP_001357235.1:p.Pro278SerfsTer17 | |
| NM_001370307.1:c.830dup | NP_001357236.1:p.Pro278SerfsTer17 | |
| NM_001370308.1:c.800dup | NP_001357237.1:p.Pro268SerfsTer17 | |
| NM_001370311.1:c.728dup | NP_001357240.1:p.Pro244SerfsTer17 | |
| NM_001370313.1:c.707dup | NP_001357242.1:p.Pro237SerfsTer17 | |
| NM_001375485.1:c.833dup | NP_001362414.1:p.Pro279SerfsTer17 | |
| NM_015528.3:c.833dup MANE Select | NP_056343.1:p.Pro279SerfsTer17 |