Linked Data
ClinVar Variation Id:
60497
ClinVar RCV Id:
RCV000054403
dbSNP Id:
rs786200943
PubMed:
PMID:23664118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232601_1232622del , CM000663.2:g.1232601_1232622del | GRCh38 |
| NC_000001.10:g.1167981_1168002del , CM000663.1:g.1167981_1168002del | GRCh37 |
| NC_000001.9:g.1157844_1157865del | NCBI36 |
| NG_030007.1:g.4452_4473del | |
| NG_033265.1:g.5353_5374del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379198.5:c.323_344del MANE Select | ENSP00000368496.2:p.Ala108GlyfsTer? | |
| ENST00000379198.3:c.323_344del | ENSP00000368496.2:p.Ala108GlyfsTer? | |
| NM_080605.3:c.323_344del | NP_542172.2:p.Ala108GlyfsTer? | |
| NM_080605.4:c.323_344del MANE Select | NP_542172.2:p.Ala108GlyfsTer? |