Linked Data
ClinVar Variation Id:
9959
ClinVar RCV Id:
RCV001799596
dbSNP Id:
rs587776724
PubMed:
PMID:8557259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331471_15331472insT , CM000685.2:g.15331471_15331472insT | GRCh38 |
| NC_000023.10:g.15349593_15349594insT , CM000685.1:g.15349593_15349594insT | GRCh37 |
| NC_000023.9:g.15259514_15259515insT | NCBI36 |
| NG_009786.1:g.9067_9068insA , LRG_160:g.9067_9068insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.459_460insA MANE Select | ENSP00000369820.3:p.His154ThrfsTer8 | |
| ENST00000637296.1:c.-314-173_-314-172insA | ENSP00000490545.1:n.-314-173_-314-172insA | |
| ENST00000637626.1:c.459_460insA | ENSP00000489928.1:p.His154ThrfsTer8 | |
| ENST00000638131.1:c.111+348_111+349insA | ENSP00000490483.1:n.111+348_111+349insA | |
| ENST00000333590.5:c.459_460insA | ENSP00000369820.3:p.His154ThrfsTer8 | |
| ENST00000474662.2:n.142+402_142+403insA | ||
| ENST00000482148.6:c.341+118_341+119insA | ENSP00000489528.1:n.341+118_341+119insA | |
| ENST00000542278.6:c.459_460insA | ENSP00000442653.2:p.His154ThrfsTer8 | |
| ENST00000634286.1:c.134+118_134+119insA | ENSP00000489491.1:n.134+118_134+119insA | |
| ENST00000634582.1:c.13+4029_13+4030insA | ENSP00000489540.1:n.13+4029_13+4030insA | |
| ENST00000634640.1:c.-231+402_-231+403insA | ENSP00000489083.1:n.-231+402_-231+403insA | |
| ENST00000635045.1:n.544_545insA | ||
| ENST00000635598.1:c.341+118_341+119insA | ENSP00000489207.1:n.341+118_341+119insA | |
| NM_002641.3:c.459_460insA , LRG_160t1:c.459_460insA | NP_002632.1:p.His154ThrfsTer8 | |
| NM_020473.3:c.13+4029_13+4030insA | NP_065206.3:n.13+4029_13+4030insA | |
| NR_033835.1:n.457+118_457+119insA | ||
| NR_033836.1:n.173+402_173+403insA | ||
| NM_002641.4:c.459_460insA MANE Select | NP_002632.1:p.His154ThrfsTer8 |