Linked Data
ClinVar Variation Id:
526580
ClinVar RCV Id:
RCV000631141
dbSNP Id:
rs1553185474
gnomAD v4:
1-99875396-ACTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99875402_99875405del , CM000663.2:g.99875402_99875405del | GRCh38 |
| NC_000001.10:g.100340958_100340961del , CM000663.1:g.100340958_100340961del | GRCh37 |
| NC_000001.9:g.100113546_100113549del | NCBI36 |
| NG_012865.1:g.30319_30322del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.1230_1233del MANE Select | ENSP00000355106.3:p.Gly411MetfsTer5 | |
| ENST00000637337.1:n.1441_1444del | ||
| ENST00000294724.8:c.1230_1233del | ENSP00000294724.4:p.Gly411MetfsTer5 | |
| ENST00000361302.7:c.1182_1185del | ENSP00000354971.3:p.Gly395MetfsTer5 | |
| ENST00000361522.4:c.1179_1182del | ENSP00000354635.4:p.Gly394MetfsTer5 | |
| ENST00000361915.7:c.1230_1233del | ENSP00000355106.3:p.Gly411MetfsTer5 | |
| ENST00000370161.6:c.1182_1185del | ENSP00000359180.2:p.Gly395MetfsTer5 | |
| ENST00000370163.7:c.1230_1233del | ENSP00000359182.3:p.Gly411MetfsTer5 | |
| ENST00000370165.7:c.1230_1233del | ENSP00000359184.3:p.Gly411MetfsTer5 | |
| ENST00000477753.1:n.489_492del | ||
| NM_000028.2:c.1230_1233del | NP_000019.2:p.Gly411MetfsTer5 | |
| NM_000642.2:c.1230_1233del | NP_000633.2:p.Gly411MetfsTer5 | |
| NM_000643.2:c.1230_1233del | NP_000634.2:p.Gly411MetfsTer5 | |
| NM_000644.2:c.1230_1233del | NP_000635.2:p.Gly411MetfsTer5 | |
| NM_000645.2:c.1179_1182del | NP_000636.2:p.Gly394MetfsTer5 | |
| NM_000646.2:c.1182_1185del | NP_000637.2:p.Gly395MetfsTer5 | |
| XM_005270557.1:c.1230_1233del | XP_005270614.1:p.Gly411MetfsTer5 | |
| XM_005270557.2:c.1230_1233del | XP_005270614.1:p.Gly411MetfsTer5 | |
| NM_000642.3:c.1230_1233del MANE Select | NP_000633.2:p.Gly411MetfsTer5 |