Linked Data
ClinVar Variation Id:
356102
ClinVar RCV Id:
RCV000397029
dbSNP Id:
rs542619563
gnomAD v2:
6-18129996-AGATT-A
gnomAD v3:
6-18129765-AGATT-A
gnomAD v4:
6-18129765-AGATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18129767_18129770del , CM000668.2:g.18129767_18129770del | GRCh38 |
| NC_000006.11:g.18129998_18130001del , CM000668.1:g.18129998_18130001del | GRCh37 |
| NC_000006.10:g.18237977_18237980del | NCBI36 |
| NG_012137.2:g.30375_30378del | |
| NG_012137.3:g.30375_30378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.*899_*902del MANE Select | ENSP00000312304.4:n.*899_*902del | |
| ENST00000309983.4:c.*899_*902del | ENSP00000312304.4:n.*899_*902del | |
| NM_000367.3:c.*899_*902del | NP_000358.1:n.*899_*902del | |
| XM_011514839.1:c.*899_*902del | XP_011513141.1:n.*899_*902del | |
| XM_011514840.1:c.*899_*902del | XP_011513142.1:n.*899_*902del | |
| NM_000367.4:c.*899_*902del | NP_000358.1:n.*899_*902del | |
| NM_001346817.1:c.*899_*902del | NP_001333746.1:n.*899_*902del | |
| NM_001346818.1:c.*899_*902del | NP_001333747.1:n.*899_*902del | |
| NM_000367.5:c.*899_*902del MANE Select | NP_000358.1:n.*899_*902del |