Linked Data
ClinVar Variation Id:
91197
ClinVar RCV Id:
RCV000076701
dbSNP Id:
rs267607931
PubMed:
PMID:17569143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47412527_47412530del , CM000664.2:g.47412527_47412530del | GRCh38 |
| NC_000002.11:g.47639666_47639669del , CM000664.1:g.47639666_47639669del | GRCh37 |
| NC_000002.10:g.47493170_47493173del | NCBI36 |
| NG_007110.2:g.14404_14407del , LRG_218:g.14404_14407del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.759_762del | ENSP00000495641.2:p.Met253IlefsTer20 | |
| ENST00000233146.7:c.759_762del MANE Select | ENSP00000233146.2:p.Met253IlefsTer20 | |
| ENST00000543555.6:c.561_564del | ENSP00000442697.1:p.Met187IlefsTer20 | |
| ENST00000644092.1:c.759_762del | ENSP00000496351.1:p.Met253IlefsTer20 | |
| ENST00000645339.1:c.759_762del | ENSP00000496441.1:p.Met253IlefsTer20 | |
| ENST00000645506.1:c.759_762del | ENSP00000495455.1:p.Met253IlefsTer20 | |
| ENST00000646415.1:c.759_762del | ENSP00000495543.1:p.Met253IlefsTer20 | |
| ENST00000233146.6:c.759_762del | ENSP00000233146.2:p.Met253IlefsTer20 | |
| ENST00000406134.5:c.759_762del | ENSP00000384199.1:p.Met253IlefsTer20 | |
| ENST00000543555.5:c.561_564del | ENSP00000442697.1:p.Met187IlefsTer20 | |
| ENST00000610696.4:c.759_762del | ENSP00000483159.1:p.Met253IlefsTer20 | |
| ENST00000613514.4:c.759_762del | ENSP00000484137.1:p.Met253IlefsTer20 | |
| ENST00000617333.3:c.759_762del | ENSP00000482468.1:p.Met253IlefsTer20 | |
| ENST00000617938.4:c.759_762del | ENSP00000481158.1:p.Met253IlefsTer20 | |
| ENST00000621359.2:c.759_762del | ENSP00000481416.1:p.Met253IlefsTer20 | |
| NM_000251.2:c.759_762del , LRG_218t1:c.759_762del | NP_000242.1:p.Met253IlefsTer20 | |
| NM_001258281.1:c.561_564del | NP_001245210.1:p.Met187IlefsTer20 | |
| XM_005264332.2:c.759_762del | XP_005264389.2:p.Met253IlefsTer20 | |
| XM_011532867.1:c.759_762del | XP_011531169.1:p.Met253IlefsTer20 | |
| XR_939685.1:n.831_834del | ||
| XM_005264332.4:c.759_762del | XP_005264389.2:p.Met253IlefsTer20 | |
| XM_011532867.2:c.759_762del | XP_011531169.1:p.Met253IlefsTer20 | |
| XR_001738747.2:n.821_824del | ||
| XR_939685.2:n.821_824del | ||
| NM_000251.3:c.759_762del MANE Select | NP_000242.1:p.Met253IlefsTer20 |