Linked Data
ClinVar Variation Id:
242985
ClinVar RCV Id:
RCV000234964
dbSNP Id:
rs879253774
PubMed:
PMID:27063057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843043_6843045del , CM000674.2:g.6843043_6843045del | GRCh38 |
| NC_000012.11:g.6952207_6952209del , CM000674.1:g.6952207_6952209del | GRCh37 |
| NC_000012.10:g.6822468_6822470del | NCBI36 |
| NG_009100.1:g.7833_7835del | |
| NG_009100.2:g.7833_7835del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229264.8:c.170_172del MANE Select | ENSP00000229264.3:p.Lys57del | |
| ENST00000229264.7:c.170_172del | ENSP00000229264.3:p.Lys57del | |
| ENST00000435982.6:c.170_172del | ENSP00000414734.2:p.Lys57del | |
| ENST00000537035.1:c.170_172del | ENSP00000445967.1:p.Lys57del | |
| ENST00000539127.5:c.*190_*192del | ENSP00000444325.1:n.*190_*192del | |
| ENST00000540458.5:n.1521_1523del | ||
| ENST00000541257.5:c.170_172del | ENSP00000442002.1:p.Lys57del | |
| ENST00000541978.5:c.170_172del | ENSP00000439753.2:p.Lys57del | |
| NM_001297571.1:c.170_172del | NP_001284500.1:p.Lys57del | |
| NM_002075.3:c.170_172del | NP_002066.1:p.Lys57del | |
| XM_011520953.1:c.170_172del | XP_011519255.1:p.Lys57del | |
| XM_011520954.1:c.170_172del | XP_011519256.1:p.Lys57del | |
| XM_011520953.3:c.170_172del | XP_011519255.1:p.Lys57del | |
| NM_001297571.2:c.170_172del | NP_001284500.1:p.Lys57del | |
| NM_002075.4:c.170_172del MANE Select | NP_002066.1:p.Lys57del |