Linked Data
ClinVar Variation Id:
252191
ClinVar RCV Id:
RCV000237162
dbSNP Id:
rs879255121
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120432_11120445del , CM000681.2:g.11120432_11120445del | GRCh38 |
| NC_000019.9:g.11231108_11231121del , CM000681.1:g.11231108_11231121del | GRCh37 |
| NC_000019.8:g.11092108_11092121del | NCBI36 |
| NG_009060.1:g.36052_36065del , LRG_274:g.36052_36065del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2308_2321del | ENSP00000252444.6:p.Ala770ProfsTer28 | |
| ENST00000559340.2:c.*119_*132del | ENSP00000453696.2:n.*119_*132del | |
| ENST00000560467.2:c.1930_1943del | ENSP00000453513.2:p.Ala644ProfsTer28 | |
| ENST00000558518.6:c.2050_2063del MANE Select | ENSP00000454071.1:p.Ala684ProfsTer28 | |
| ENST00000252444.9:c.2304_2317del | ||
| ENST00000455727.6:c.1546_1559del | ENSP00000397829.2:p.Ala516ProfsTer28 | |
| ENST00000535915.5:c.1927_1940del | ENSP00000440520.1:p.Ala643ProfsTer28 | |
| ENST00000545707.5:c.1606+199_1606+212del | ENSP00000437639.1:n.1606+199_1606+212del | |
| ENST00000557933.5:c.2050_2063del | ENSP00000453557.1:p.Ala684ProfsTer28 | |
| ENST00000558013.5:c.2050_2063del | ENSP00000453346.1:p.Ala684ProfsTer28 | |
| ENST00000558518.5:c.2050_2063del | ENSP00000454071.1:p.Ala684ProfsTer28 | |
| NM_000527.4:c.2050_2063del , LRG_274t1:c.2050_2063del | NP_000518.1:p.Ala684ProfsTer28 | |
| NM_001195798.1:c.2050_2063del | NP_001182727.1:p.Ala684ProfsTer28 | |
| NM_001195799.1:c.1927_1940del | NP_001182728.1:p.Ala643ProfsTer28 | |
| NM_001195800.1:c.1546_1559del | NP_001182729.1:p.Ala516ProfsTer28 | |
| NM_001195803.1:c.1606+199_1606+212del | NP_001182732.1:n.1606+199_1606+212del | |
| XM_011528010.1:c.2050_2063del | XP_011526312.1:p.Ala684ProfsTer28 | |
| XM_011528011.1:c.1669_1682del | XP_011526313.1:p.Ala557ProfsTer28 | |
| XR_244074.2:n.2060_2073del | ||
| XM_011528010.2:c.2050_2063del | XP_011526312.1:p.Ala684ProfsTer28 | |
| XR_001753685.2:n.2167_2180del | ||
| XR_001753686.2:n.2027_2040del | ||
| NM_000527.5:c.2050_2063del MANE Select | NP_000518.1:p.Ala684ProfsTer28 | |
| NM_001195798.2:c.2050_2063del | NP_001182727.1:p.Ala684ProfsTer28 | |
| NM_001195799.2:c.1927_1940del | NP_001182728.1:p.Ala643ProfsTer28 | |
| NM_001195800.2:c.1546_1559del | NP_001182729.1:p.Ala516ProfsTer28 | |
| NM_001195803.2:c.1606+199_1606+212del | NP_001182732.1:n.1606+199_1606+212del |