Linked Data
ClinVar Variation Id:
3046752
ClinVar RCV Id:
RCV003934593
dbSNP Id:
rs1362081601
gnomAD v2:
2-219678744-ACAT-A
gnomAD v3:
2-218814021-ACAT-A
gnomAD v4:
2-218814021-ACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814023_218814025del , CM000664.2:g.218814023_218814025del | GRCh38 |
| NC_000002.11:g.219678746_219678748del , CM000664.1:g.219678746_219678748del | GRCh37 |
| NC_000002.10:g.219386990_219386992del | NCBI36 |
| NG_007959.1:g.37275_37277del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1020_1022del MANE Select | ENSP00000258415.4:p.Ser341del | |
| ENST00000258415.8:c.1020_1022del | ENSP00000258415.4:p.Ser341del | |
| ENST00000445971.1:c.*481_*483del | ENSP00000404945.1:n.*481_*483del | |
| ENST00000466602.1:n.1142_1144del | ||
| ENST00000494263.5:n.1454_1456del | ||
| NM_000784.3:c.1020_1022del | NP_000775.1:p.Ser341del | |
| XM_017003488.2:c.600_602del | XP_016858977.1:p.Ser201del | |
| NM_000784.4:c.1020_1022del MANE Select | NP_000775.1:p.Ser341del |