Linked Data
ClinVar Variation Id:
337205
ClinVar RCV Id:
RCV000357441
dbSNP Id:
rs200418394
gnomAD v2:
2-85773684-AAAG-A
gnomAD v3:
2-85546561-AAAG-A
gnomAD v4:
2-85546561-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546562_85546564del , CM000664.2:g.85546562_85546564del | GRCh38 |
| NC_000002.11:g.85773685_85773687del , CM000664.1:g.85773685_85773687del | GRCh37 |
| NC_000002.10:g.85627196_85627198del | NCBI36 |
| NG_011811.2:g.19971_19973del | |
| NG_029183.1:g.12585_12587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3370_*3372del MANE Select | ENSP00000233838.3:n.*3370_*3372del | |
| ENST00000233838.8:c.*3370_*3372del | ENSP00000233838.3:n.*3370_*3372del | |
| NM_000821.5:c.*3370_*3372del | NP_000812.2:n.*3370_*3372del | |
| NM_000821.6:c.*3370_*3372del | NP_000812.2:n.*3370_*3372del | |
| NM_001142269.2:c.*3370_*3372del | NP_001135741.1:n.*3370_*3372del | |
| NM_001142269.3:c.*3370_*3372del | NP_001135741.1:n.*3370_*3372del | |
| NM_000821.7:c.*3370_*3372del MANE Select | NP_000812.2:n.*3370_*3372del | |
| NM_001142269.4:c.*3370_*3372del | NP_001135741.1:n.*3370_*3372del |