Linked Data
ClinVar Variation Id:
45020
dbSNP Id:
rs397516993
gnomAD v4:
12-32850771-ATTTG-A
PubMed:
PMID:15489853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32850775_32850778del , CM000674.2:g.32850775_32850778del | GRCh38 |
| NC_000012.11:g.33003709_33003712del , CM000674.1:g.33003709_33003712del | GRCh37 |
| NC_000012.10:g.32894976_32894979del | NCBI36 |
| NG_009000.1:g.51072_51075del , LRG_398:g.51072_51075del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700559.2:c.1369_1372del | ENSP00000515065.2:p.Gln457Ter | |
| ENST00000700563.2:c.1369_1372del | ENSP00000515066.2:p.Gln457Ter | |
| ENST00000700559.1:c.584_587del | ||
| ENST00000700560.1:n.584_587del | ||
| ENST00000700561.1:n.710_713del | ||
| ENST00000700563.1:c.1323_1326del | ||
| ENST00000700564.1:n.1373_1376del | ||
| ENST00000700565.1:n.1222_1225del | ||
| ENST00000070846.11:c.1369_1372del | ENSP00000070846.6:p.Gln457Ter | |
| ENST00000340811.9:c.1369_1372del MANE Select | ENSP00000342800.5:p.Gln457Ter | |
| ENST00000070846.10:c.1369_1372del | ENSP00000070846.6:p.Gln457Ter | |
| ENST00000340811.8:c.1369_1372del | ENSP00000342800.4:p.Gln457Ter | |
| ENST00000613243.1:c.1369_1372del | ENSP00000478295.1:p.Gln457Ter | |
| NM_001005242.2:c.1369_1372del | NP_001005242.2:p.Gln457Ter | |
| NM_004572.3:c.1369_1372del , LRG_398t1:c.1369_1372del | NP_004563.2:p.Gln457Ter | |
| NM_001005242.3:c.1369_1372del MANE Select | NP_001005242.2:p.Gln457Ter | |
| NM_004572.4:c.1369_1372del | NP_004563.2:p.Gln457Ter |