Linked Data
ClinVar Variation Id:
189004
dbSNP Id:
rs769967565
ExAC:
1:209800846 TTG / T
gnomAD v2:
1-209800846-TTG-T
gnomAD v3:
1-209627501-TTG-T
gnomAD v4:
1-209627501-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209627502_209627503del , CM000663.2:g.209627502_209627503del | GRCh38 |
| NC_000001.10:g.209800847_209800848del , CM000663.1:g.209800847_209800848del | GRCh37 |
| NC_000001.9:g.207867470_207867471del | NCBI36 |
| NG_007116.1:g.29973_29974del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.1365_1366del MANE Select | ENSP00000348384.3:p.Asn456ArgfsTer7 | |
| ENST00000356082.8:c.1365_1366del | ENSP00000348384.3:p.Asn456ArgfsTer7 | |
| ENST00000367030.7:c.1365_1366del | ENSP00000355997.3:p.Asn456ArgfsTer7 | |
| ENST00000391911.5:c.1365_1366del | ENSP00000375778.1:p.Asn456ArgfsTer7 | |
| NM_000228.2:c.1365_1366del | NP_000219.2:p.Asn456ArgfsTer7 | |
| NM_001017402.1:c.1365_1366del | NP_001017402.1:p.Asn456ArgfsTer7 | |
| NM_001127641.1:c.1365_1366del | NP_001121113.1:p.Asn456ArgfsTer7 | |
| XM_005273124.3:c.1365_1366del | XP_005273181.1:p.Asn456ArgfsTer7 | |
| XM_005273124.4:c.1365_1366del | XP_005273181.1:p.Asn456ArgfsTer7 | |
| XM_017001272.2:c.1173_1174del | XP_016856761.1:p.Asn392ArgfsTer7 | |
| NM_000228.3:c.1365_1366del MANE Select | NP_000219.2:p.Asn456ArgfsTer7 | |
| NM_001017402.2:c.1365_1366del | NP_001017402.1:p.Asn456ArgfsTer7 |