Linked Data
ClinVar Variation Id:
425929
ClinVar RCV Id:
RCV000488512
dbSNP Id:
rs1085307340
COSMIC:
COSM2908017
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542405del , CM000664.2:g.202542405del | GRCh38 |
| NC_000002.11:g.203407128del , CM000664.1:g.203407128del | GRCh37 |
| NC_000002.10:g.203115373del | NCBI36 |
| NG_009363.1:g.171079del , LRG_712:g.171079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1371del MANE Select | ENSP00000363708.4:p.Lys457AsnfsTer17 | |
| ENST00000638587.1:c.1302del | ENSP00000491062.1:p.Lys434AsnfsTer17 | |
| ENST00000374574.2:c.1371del | ENSP00000363702.2:p.Lys457AsnfsTer17 | |
| ENST00000374580.8:c.1371del | ENSP00000363708.4:p.Lys457AsnfsTer17 | |
| NM_001204.6:c.1371del , LRG_712t1:c.1371del | NP_001195.2:p.Lys457AsnfsTer17 | |
| XM_011511687.1:c.1371del | XP_011509989.1:p.Lys457AsnfsTer17 | |
| XM_011511688.1:c.1371del | XP_011509990.1:p.Lys457AsnfsTer17 | |
| NM_001204.7:c.1371del MANE Select | NP_001195.2:p.Lys457AsnfsTer17 |