Linked Data
ClinVar Variation Id:
14877
ClinVar RCV Id:
RCV000016005
dbSNP Id:
rs587776824
PubMed:
PMID:19006232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093054_176093074del , CM000664.2:g.176093054_176093074del | GRCh38 |
| NC_000002.11:g.176957782_176957802del , CM000664.1:g.176957782_176957802del | GRCh37 |
| NC_000002.10:g.176666028_176666048del | NCBI36 |
| NG_008137.1:g.5251_5271del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392539.4:c.164_184del MANE Select | ENSP00000376322.3:p.Gly55_Ala61del | |
| ENST00000392539.3:c.164_184del | ENSP00000376322.3:p.Gly55_Ala61del | |
| NM_000523.3:c.164_184del | NP_000514.2:p.Gly55_Ala61del | |
| XM_011511068.1:c.725-1426_725-1406del | XP_011509370.1:n.725-1426_725-1406del | |
| XM_011511068.2:c.725-1426_725-1406del | XP_011509370.1:n.725-1426_725-1406del | |
| NM_000523.4:c.164_184del MANE Select | NP_000514.2:p.Gly55_Ala61del |