Linked Data
ClinVar Variation Id:
425862
ClinVar RCV Id:
RCV000488493
dbSNP Id:
rs1085307287
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202530837_202530841del , CM000664.2:g.202530837_202530841del | GRCh38 |
| NC_000002.11:g.203395560_203395564del , CM000664.1:g.203395560_203395564del | GRCh37 |
| NC_000002.10:g.203103805_203103809del | NCBI36 |
| NG_009363.1:g.159511_159515del , LRG_712:g.159511_159515del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1011_1015del MANE Select | ENSP00000363708.4:p.Arg337SerfsTer6 | |
| ENST00000638587.1:c.942_946del | ENSP00000491062.1:p.Arg314SerfsTer6 | |
| ENST00000374574.2:c.1011_1015del | ENSP00000363702.2:p.Arg337SerfsTer6 | |
| ENST00000374580.8:c.1011_1015del | ENSP00000363708.4:p.Arg337SerfsTer6 | |
| NM_001204.6:c.1011_1015del , LRG_712t1:c.1011_1015del | NP_001195.2:p.Arg337SerfsTer6 | |
| XM_011511687.1:c.1011_1015del | XP_011509989.1:p.Arg337SerfsTer6 | |
| XM_011511688.1:c.1011_1015del | XP_011509990.1:p.Arg337SerfsTer6 | |
| NM_001204.7:c.1011_1015del MANE Select | NP_001195.2:p.Arg337SerfsTer6 |