Linked Data
ClinVar Variation Id:
425728
ClinVar RCV Id:
RCV000488744
dbSNP Id:
rs1085307186
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464978dup , CM000664.2:g.202464978dup | GRCh38 |
| NC_000002.11:g.203329701dup , CM000664.1:g.203329701dup | GRCh37 |
| NC_000002.10:g.203037946dup | NCBI36 |
| NG_009363.1:g.93652dup , LRG_712:g.93652dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.246dup MANE Select | ENSP00000363708.4:p.Gly83ArgfsTer15 | |
| ENST00000638587.1:c.171dup | ENSP00000491062.1:p.Gly58ArgfsTer17 | |
| ENST00000374574.2:c.246dup | ENSP00000363702.2:p.Gly83ArgfsTer15 | |
| ENST00000374580.8:c.246dup | ENSP00000363708.4:p.Gly83ArgfsTer15 | |
| ENST00000479069.1:n.153dup | ||
| NM_001204.6:c.246dup , LRG_712t1:c.246dup | NP_001195.2:p.Gly83ArgfsTer15 | |
| XM_011511687.1:c.246dup | XP_011509989.1:p.Gly83ArgfsTer15 | |
| XM_011511688.1:c.246dup | XP_011509990.1:p.Gly83ArgfsTer15 | |
| NM_001204.7:c.246dup MANE Select | NP_001195.2:p.Gly83ArgfsTer15 |