Linked Data
ClinVar Variation Id:
3075751
ClinVar RCV Id:
RCV004018069
gnomAD v4:
19-11123290-CCTGGGGCCACCCCTGGGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123292_11123310del , CM000681.2:g.11123292_11123310del | GRCh38 |
| NC_000019.9:g.11233968_11233986del , CM000681.1:g.11233968_11233986del | GRCh37 |
| NC_000019.8:g.11094968_11094986del | NCBI36 |
| NG_009060.1:g.38912_38930del , LRG_274:g.38912_38930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2517_2535del | ENSP00000252444.6:p.Gly840ProfsTer5 | |
| ENST00000559340.2:c.*328_*346del | ENSP00000453696.2:n.*328_*346del | |
| ENST00000560467.2:c.2139_2157del | ENSP00000453513.2:p.Gly714ProfsTer5 | |
| ENST00000558518.6:c.2259_2277del MANE Select | ENSP00000454071.1:p.Gly754ProfsTer5 | |
| ENST00000252444.9:c.2513_2531del | ||
| ENST00000455727.6:c.1755_1773del | ENSP00000397829.2:p.Gly586ProfsTer5 | |
| ENST00000535915.5:c.2136_2154del | ENSP00000440520.1:p.Gly713ProfsTer5 | |
| ENST00000545707.5:c.1725_1743del | ENSP00000437639.1:p.Gly576ProfsTer5 | |
| ENST00000557933.5:c.2259_2277del | ENSP00000453557.1:p.Gly754ProfsTer5 | |
| ENST00000558013.5:c.2259_2277del | ENSP00000453346.1:p.Gly754ProfsTer5 | |
| ENST00000558518.5:c.2259_2277del | ENSP00000454071.1:p.Gly754ProfsTer5 | |
| NM_000527.4:c.2259_2277del , LRG_274t1:c.2259_2277del | NP_000518.1:p.Gly754ProfsTer5 | |
| NM_001195798.1:c.2259_2277del | NP_001182727.1:p.Gly754ProfsTer5 | |
| NM_001195799.1:c.2136_2154del | NP_001182728.1:p.Gly713ProfsTer5 | |
| NM_001195800.1:c.1755_1773del | NP_001182729.1:p.Gly586ProfsTer5 | |
| NM_001195803.1:c.1725_1743del | NP_001182732.1:p.Gly576ProfsTer5 | |
| XM_011528010.1:c.2259_2277del | XP_011526312.1:p.Gly754ProfsTer5 | |
| XM_011528011.1:c.1878_1896del | XP_011526313.1:p.Gly627ProfsTer5 | |
| XR_244074.2:n.2269_2287del | ||
| XM_011528010.2:c.2259_2277del | XP_011526312.1:p.Gly754ProfsTer5 | |
| XR_001753685.2:n.2593_2611del | ||
| XR_001753686.2:n.2236_2254del | ||
| NM_000527.5:c.2259_2277del MANE Select | NP_000518.1:p.Gly754ProfsTer5 | |
| NM_001195798.2:c.2259_2277del | NP_001182727.1:p.Gly754ProfsTer5 | |
| NM_001195799.2:c.2136_2154del | NP_001182728.1:p.Gly713ProfsTer5 | |
| NM_001195800.2:c.1755_1773del | NP_001182729.1:p.Gly586ProfsTer5 | |
| NM_001195803.2:c.1725_1743del | NP_001182732.1:p.Gly576ProfsTer5 |