Linked Data
ClinVar Variation Id:
7919
dbSNP Id:
rs548208942
ExAC:
4:175443135 CAG / C
gnomAD v2:
4-175443135-CAG-C
gnomAD v3:
4-174521984-CAG-C
gnomAD v4:
4-174521984-CAG-C
COSMIC:
COSM5479627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174521987_174521988del , CM000666.2:g.174521987_174521988del | GRCh38 |
| NC_000004.11:g.175443138_175443139del , CM000666.1:g.175443138_175443139del | GRCh37 |
| NC_000004.10:g.175679713_175679714del | NCBI36 |
| NG_011689.1:g.5656_5657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.175_176del MANE Select | ENSP00000296522.6:p.Leu59ValfsTer8 | |
| ENST00000296521.11:c.175_176del | ENSP00000296521.7:p.Leu59ValfsTer8 | |
| ENST00000296522.10:c.175_176del | ENSP00000296522.6:p.Leu59ValfsTer8 | |
| ENST00000422112.6:c.175_176del | ENSP00000398720.2:p.Leu59ValfsTer8 | |
| ENST00000504433.1:c.175_176del | ENSP00000420892.1:p.Leu59ValfsTer8 | |
| ENST00000506910.5:c.-189_-188del | ENSP00000423066.1:n.-189_-188del | |
| ENST00000508330.5:c.175_176del | ENSP00000425741.1:p.Leu59ValfsTer8 | |
| ENST00000510835.5:c.93+373_93+374del | ENSP00000427699.1:n.93+373_93+374del | |
| ENST00000510901.5:c.-189_-188del | ENSP00000422418.1:n.-189_-188del | |
| ENST00000512410.1:n.156_157del | ||
| ENST00000514584.5:c.-189_-188del | ENSP00000423110.1:n.-189_-188del | |
| ENST00000541923.5:c.-82_-81del | ENSP00000438017.1:n.-82_-81del | |
| ENST00000542498.5:c.175_176del | ENSP00000443644.1:p.Leu59ValfsTer8 | |
| NM_000860.5:c.175_176del | NP_000851.2:p.Leu59ValfsTer8 | |
| NM_001145816.2:c.175_176del | NP_001139288.1:p.Leu59ValfsTer8 | |
| NM_001256301.1:c.-189_-188del | NP_001243230.1:n.-189_-188del | |
| NM_001256305.1:c.175_176del | NP_001243234.1:p.Leu59ValfsTer8 | |
| NM_001256306.1:c.175_176del | NP_001243235.1:p.Leu59ValfsTer8 | |
| NM_001256307.1:c.-82_-81del | NP_001243236.1:n.-82_-81del | |
| XM_011531907.1:c.175_176del | XP_011530209.1:p.Leu59ValfsTer8 | |
| XR_938728.1:n.617_618del | ||
| NM_001363574.1:c.175_176del | NP_001350503.1:p.Leu59ValfsTer8 | |
| XR_938728.2:n.212_213del | ||
| NM_000860.6:c.175_176del MANE Select | NP_000851.2:p.Leu59ValfsTer8 | |
| NM_001363574.2:c.175_176del | NP_001350503.1:p.Leu59ValfsTer8 | |
| NM_001145816.3:c.175_176del | NP_001139288.1:p.Leu59ValfsTer8 | |
| NM_001256305.2:c.175_176del | NP_001243234.1:p.Leu59ValfsTer8 | |
| NM_001256306.2:c.175_176del | NP_001243235.1:p.Leu59ValfsTer8 | |
| NM_001256307.2:c.-82_-81del | NP_001243236.1:n.-82_-81del |