Linked Data
ClinVar Variation Id:
337200
ClinVar RCV Id:
RCV000398259
dbSNP Id:
rs71390078
gnomAD v2:
2-85773609-GC-G
gnomAD v3:
2-85546486-GC-G
gnomAD v4:
2-85546486-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546487del , CM000664.2:g.85546487del | GRCh38 |
| NC_000002.11:g.85773610del , CM000664.1:g.85773610del | GRCh37 |
| NC_000002.10:g.85627121del | NCBI36 |
| NG_011811.2:g.20048del | |
| NG_029183.1:g.12510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3447del MANE Select | ENSP00000233838.3:n.*3447del | |
| ENST00000233838.8:c.*3447del | ENSP00000233838.3:n.*3447del | |
| NM_000821.5:c.*3447del | NP_000812.2:n.*3447del | |
| NM_000821.6:c.*3447del | NP_000812.2:n.*3447del | |
| NM_001142269.2:c.*3447del | NP_001135741.1:n.*3447del | |
| NM_001142269.3:c.*3447del | NP_001135741.1:n.*3447del | |
| NM_000821.7:c.*3447del MANE Select | NP_000812.2:n.*3447del | |
| NM_001142269.4:c.*3447del | NP_001135741.1:n.*3447del |