Linked Data
ClinVar Variation Id:
252289
ClinVar RCV Id:
RCV000238512
dbSNP Id:
rs879255181
PubMed:
PMID:10735632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128039_11128043del , CM000681.2:g.11128039_11128043del | GRCh38 |
| NC_000019.9:g.11238715_11238719del , CM000681.1:g.11238715_11238719del | GRCh37 |
| NC_000019.8:g.11099715_11099719del | NCBI36 |
| NG_009060.1:g.43659_43663del , LRG_274:g.43659_43663del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2601_2605del | ENSP00000252444.6:p.Lys868AlafsTer3 | |
| ENST00000559340.2:c.*412_*416del | ENSP00000453696.2:n.*412_*416del | |
| ENST00000560467.2:c.2223_2227del | ENSP00000453513.2:p.Lys742AlafsTer3 | |
| ENST00000558518.6:c.2343_2347del MANE Select | ENSP00000454071.1:p.Lys782AlafsTer3 | |
| ENST00000252444.9:c.2597_2601del | ||
| ENST00000455727.6:c.1839_1843del | ENSP00000397829.2:p.Lys614AlafsTer3 | |
| ENST00000535915.5:c.2220_2224del | ENSP00000440520.1:p.Lys741AlafsTer3 | |
| ENST00000545707.5:c.1809_1813del | ENSP00000437639.1:p.Lys604AlafsTer3 | |
| ENST00000557933.5:c.2343_2347del | ENSP00000453557.1:p.Lys782AlafsTer3 | |
| ENST00000558013.5:c.2343_2347del | ENSP00000453346.1:p.Lys782AlafsTer3 | |
| ENST00000558518.5:c.2343_2347del | ENSP00000454071.1:p.Lys782AlafsTer3 | |
| ENST00000560628.1:n.108+385_108+389del | ||
| NM_000527.4:c.2343_2347del , LRG_274t1:c.2343_2347del | NP_000518.1:p.Lys782AlafsTer3 | |
| NM_001195798.1:c.2343_2347del | NP_001182727.1:p.Lys782AlafsTer3 | |
| NM_001195799.1:c.2220_2224del | NP_001182728.1:p.Lys741AlafsTer3 | |
| NM_001195800.1:c.1839_1843del | NP_001182729.1:p.Lys614AlafsTer3 | |
| NM_001195803.1:c.1809_1813del | NP_001182732.1:p.Lys604AlafsTer3 | |
| XM_011528010.1:c.2312-1474_2312-1470del | XP_011526312.1:n.2312-1474_2312-1470del | |
| XM_011528011.1:c.1962_1966del | XP_011526313.1:p.Lys655AlafsTer3 | |
| XR_244074.2:n.2353_2357del | ||
| XM_011528010.2:c.2312-1474_2312-1470del | XP_011526312.1:n.2312-1474_2312-1470del | |
| XR_001753685.2:n.2677_2681del | ||
| XR_001753686.2:n.2320_2324del | ||
| NM_000527.5:c.2343_2347del MANE Select | NP_000518.1:p.Lys782AlafsTer3 | |
| NM_001195798.2:c.2343_2347del | NP_001182727.1:p.Lys782AlafsTer3 | |
| NM_001195799.2:c.2220_2224del | NP_001182728.1:p.Lys741AlafsTer3 | |
| NM_001195800.2:c.1839_1843del | NP_001182729.1:p.Lys614AlafsTer3 | |
| NM_001195803.2:c.1809_1813del | NP_001182732.1:p.Lys604AlafsTer3 |