Linked Data
ClinVar Variation Id:
17732
ClinVar RCV Id:
RCV000019306
dbSNP Id:
rs587777832
PubMed:
PMID:12130524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14840950_14840957del , CM000674.2:g.14840950_14840957del | GRCh38 |
| NC_000012.11:g.14993884_14993891del , CM000674.1:g.14993884_14993891del | GRCh37 |
| NC_000012.10:g.14885151_14885158del | NCBI36 |
| NG_007477.2:g.7525_7532del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228936.6:c.343_350del (ART4) MANE Select | ENSP00000228936.4:p.Met115HisfsTer18 | |
| ENST00000648334.1:n.125+11271_125+11278del (C12orf60) | ||
| ENST00000228936.4:c.343_350del (ART4) | ENSP00000228936.4:p.Met115HisfsTer18 | |
| ENST00000420600.1:c.292_299del (ART4) | ENSP00000405689.1:p.Met98HisfsTer18 | |
| ENST00000430129.6:c.165+127_165+134del (ART4) | ENSP00000412735.2:n.165+127_165+134del | |
| ENST00000527783.1:n.75+37199_75+37206del (C12orf60) | ||
| ENST00000533472.1:n.86+37199_86+37206del (C12orf60) | ||
| ENST00000544616.5:c.93+2015_93+2022del (ART4) | ENSP00000442877.1:n.93+2015_93+2022del | |
| NM_021071.2:c.343_350del (ART4) | NP_066549.2:p.Met115HisfsTer18 | |
| NM_001354646.1:c.343_350del (ART4) | NP_001341575.1:p.Met115HisfsTer18 | |
| NM_021071.3:c.343_350del (ART4) | NP_066549.2:p.Met115HisfsTer18 | |
| NM_021071.4:c.343_350del (ART4) MANE Select | NP_066549.2:p.Met115HisfsTer18 | |
| NM_001354646.2:c.343_350del (ART4) | NP_001341575.1:p.Met115HisfsTer18 |