Linked Data
ClinVar Variation Id:
425723
ClinVar RCV Id:
RCV000488828
dbSNP Id:
rs1085307181
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464968_202464970delinsAAAAGGGGACA , CM000664.2:g.202464968_202464970delinsAAAAGGGGACA | GRCh38 |
| NC_000002.11:g.203329691_203329693delinsAAAAGGGGACA , CM000664.1:g.203329691_203329693delinsAAAAGGGGACA | GRCh37 |
| NC_000002.10:g.203037936_203037938delinsAAAAGGGGACA | NCBI36 |
| NG_009363.1:g.93642_93644delinsAAAAGGGGACA , LRG_712:g.93642_93644delinsAAAAGGGGACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.236_238delinsAAAAGGGGACA MANE Select | ENSP00000363708.4:p.Leu79GlnfsTer5 | |
| ENST00000638587.1:c.161_163delinsAAAAGGGGACA | ENSP00000491062.1:p.Leu54GlnfsTer5 | |
| ENST00000374574.2:c.236_238delinsAAAAGGGGACA | ENSP00000363702.2:p.Leu79GlnfsTer5 | |
| ENST00000374580.8:c.236_238delinsAAAAGGGGACA | ENSP00000363708.4:p.Leu79GlnfsTer5 | |
| ENST00000479069.1:n.143_145delinsAAAAGGGGACA | ||
| NM_001204.6:c.236_238delinsAAAAGGGGACA , LRG_712t1:c.236_238delinsAAAAGGGGACA | NP_001195.2:p.Leu79GlnfsTer5 | |
| XM_011511687.1:c.236_238delinsAAAAGGGGACA | XP_011509989.1:p.Leu79GlnfsTer5 | |
| XM_011511688.1:c.236_238delinsAAAAGGGGACA | XP_011509990.1:p.Leu79GlnfsTer5 | |
| NM_001204.7:c.236_238delinsAAAAGGGGACA MANE Select | NP_001195.2:p.Leu79GlnfsTer5 |