Linked Data
ClinVar Variation Id:
920726
ClinVar RCV Id:
RCV002559769
dbSNP Id:
rs1186975248
gnomAD v2:
2-21233108-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010240_21010241del , CM000664.2:g.21010240_21010241del | GRCh38 |
| NC_000002.11:g.21233112_21233113del , CM000664.1:g.21233112_21233113del | GRCh37 |
| NC_000002.10:g.21086617_21086618del | NCBI36 |
| NG_011793.1:g.38836_38837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6630_6631del MANE Select | ENSP00000233242.1:p.Leu2212Ter | |
| ENST00000616098.4:c.6630_6631del | ENSP00000477990.1:p.Leu2212Ter | |
| NM_000384.2:c.6630_6631del | NP_000375.2:p.Leu2212Ter | |
| XM_011532809.1:c.5869+495_5869+496del | XP_011531111.1:n.5869+495_5869+496del | |
| NM_000384.3:c.6630_6631del MANE Select | NP_000375.3:p.Leu2212Ter |