Linked Data
ClinVar Variation Id:
253271
ClinVar RCV Id:
RCV000239687
dbSNP Id:
rs879255691
PubMed:
PMID:26452337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127883336_127883348del , CM000666.2:g.127883336_127883348del | GRCh38 |
| NC_000004.11:g.128804491_128804503del , CM000666.1:g.128804491_128804503del | GRCh37 |
| NC_000004.10:g.129023941_129023953del | NCBI36 |
| NG_041821.1:g.7476_7488del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270861.10:c.201_213del MANE Select | ENSP00000270861.5:p.Lys68SerfsTer18 | |
| ENST00000270861.9:c.201_213del | ENSP00000270861.5:p.Lys68SerfsTer18 | |
| ENST00000503914.1:n.437_449del | ||
| ENST00000507249.5:c.201_213del | ENSP00000423412.1:p.Lys68SerfsTer18 | |
| ENST00000511942.5:n.439_451del | ||
| ENST00000513090.5:c.127-103_127-91del | ENSP00000427554.1:n.127-103_127-91del | |
| ENST00000514379.5:c.78_90del | ENSP00000423582.1:p.Lys27SerfsTer18 | |
| ENST00000515069.5:c.201_213del | ENSP00000421774.1:p.Lys68SerfsTer18 | |
| NM_001190799.1:c.127-103_127-91del | NP_001177728.1:n.127-103_127-91del | |
| NM_001190801.1:c.78_90del | NP_001177730.1:p.Lys27SerfsTer18 | |
| NM_014264.4:c.201_213del | NP_055079.3:p.Lys68SerfsTer18 | |
| XM_005262701.2:c.201_213del | XP_005262758.1:p.Lys68SerfsTer18 | |
| XM_011531552.1:c.201_213del | XP_011529854.1:p.Lys68SerfsTer18 | |
| XM_005262701.3:c.201_213del | XP_005262758.1:p.Lys68SerfsTer18 | |
| XM_017007662.1:c.204_216del | XP_016863151.1:p.Lys69SerfsTer18 | |
| XM_017007663.2:c.204_216del | XP_016863152.1:p.Lys69SerfsTer18 | |
| NM_014264.5:c.201_213del MANE Select | NP_055079.3:p.Lys68SerfsTer18 | |
| NM_001190799.2:c.127-103_127-91del | NP_001177728.1:n.127-103_127-91del | |
| NM_001190801.2:c.78_90del | NP_001177730.1:p.Lys27SerfsTer18 |