Linked Data
ClinVar Variation Id:
252180
ClinVar RCV Id:
RCV000238246
dbSNP Id:
rs879255115
PubMed:
PMID:10735632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120415_11120426del , CM000681.2:g.11120415_11120426del | GRCh38 |
| NC_000019.9:g.11231091_11231102del , CM000681.1:g.11231091_11231102del | GRCh37 |
| NC_000019.8:g.11092091_11092102del | NCBI36 |
| NG_009060.1:g.36035_36046del , LRG_274:g.36035_36046del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2291_2302del | ENSP00000252444.6:p.Gln764_Cys767del | |
| ENST00000559340.2:c.*102_*113del | ENSP00000453696.2:n.*102_*113del | |
| ENST00000560467.2:c.1913_1924del | ENSP00000453513.2:p.Gln638_Cys641del | |
| ENST00000558518.6:c.2033_2044del MANE Select | ENSP00000454071.1:p.Gln678_Cys681del | |
| ENST00000252444.9:c.2287_2298del | ||
| ENST00000455727.6:c.1529_1540del | ENSP00000397829.2:p.Gln510_Cys513del | |
| ENST00000535915.5:c.1910_1921del | ENSP00000440520.1:p.Gln637_Cys640del | |
| ENST00000545707.5:c.1606+182_1606+193del | ENSP00000437639.1:n.1606+182_1606+193del | |
| ENST00000557933.5:c.2033_2044del | ENSP00000453557.1:p.Gln678_Cys681del | |
| ENST00000558013.5:c.2033_2044del | ENSP00000453346.1:p.Gln678_Cys681del | |
| ENST00000558518.5:c.2033_2044del | ENSP00000454071.1:p.Gln678_Cys681del | |
| NM_000527.4:c.2033_2044del , LRG_274t1:c.2033_2044del | NP_000518.1:p.Gln678_Cys681del | |
| NM_001195798.1:c.2033_2044del | NP_001182727.1:p.Gln678_Cys681del | |
| NM_001195799.1:c.1910_1921del | NP_001182728.1:p.Gln637_Cys640del | |
| NM_001195800.1:c.1529_1540del | NP_001182729.1:p.Gln510_Cys513del | |
| NM_001195803.1:c.1606+182_1606+193del | NP_001182732.1:n.1606+182_1606+193del | |
| XM_011528010.1:c.2033_2044del | XP_011526312.1:p.Gln678_Cys681del | |
| XM_011528011.1:c.1652_1663del | XP_011526313.1:p.Gln551_Cys554del | |
| XR_244074.2:n.2043_2054del | ||
| XM_011528010.2:c.2033_2044del | XP_011526312.1:p.Gln678_Cys681del | |
| XR_001753685.2:n.2150_2161del | ||
| XR_001753686.2:n.2010_2021del | ||
| NM_000527.5:c.2033_2044del MANE Select | NP_000518.1:p.Gln678_Cys681del | |
| NM_001195798.2:c.2033_2044del | NP_001182727.1:p.Gln678_Cys681del | |
| NM_001195799.2:c.1910_1921del | NP_001182728.1:p.Gln637_Cys640del | |
| NM_001195800.2:c.1529_1540del | NP_001182729.1:p.Gln510_Cys513del | |
| NM_001195803.2:c.1606+182_1606+193del | NP_001182732.1:n.1606+182_1606+193del |