Linked Data
ClinVar Variation Id:
162387
ClinVar RCV Id:
RCV000149782
dbSNP Id:
rs727502804
PubMed:
PMID:25439729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756622del , CM000664.2:g.112756622del | GRCh38 |
| NC_000002.11:g.113514199del , CM000664.1:g.113514199del | GRCh37 |
| NC_000002.10:g.113230670del | NCBI36 |
| NG_041820.1:g.13058del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302450.11:c.751del MANE Select | ENSP00000305204.6:p.Ser251AlafsTer6 | |
| ENST00000302450.10:c.751del | ENSP00000305204.6:p.Ser251AlafsTer6 | |
| ENST00000435431.5:c.478+273del | ENSP00000414834.1:n.478+273del | |
| NM_001304361.1:c.256del | NP_001291290.1:p.Ser86AlafsTer6 | |
| NM_152515.4:c.751del | NP_689728.3:p.Ser251AlafsTer6 | |
| NR_130712.1:n.557+273del | ||
| XM_011510666.1:c.256del | XP_011508968.1:p.Ser86AlafsTer6 | |
| XM_011510666.2:c.256del | XP_011508968.1:p.Ser86AlafsTer6 | |
| NM_152515.5:c.751del MANE Select | NP_689728.3:p.Ser251AlafsTer6 | |
| NM_001304361.2:c.256del | NP_001291290.1:p.Ser86AlafsTer6 | |
| NR_130712.2:n.489+273del |