Linked Data
ClinVar Variation Id:
10874
ClinVar RCV Id:
RCV000011621
dbSNP Id:
rs137853251
PubMed:
PMID:1909401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358954_19358956del , CM000685.2:g.19358954_19358956del | GRCh38 |
| NC_000023.10:g.19377072_19377074del , CM000685.1:g.19377072_19377074del | GRCh37 |
| NC_000023.9:g.19286993_19286995del | NCBI36 |
| NG_016781.1:g.20062_20064del | |
| NG_021184.1:g.161307_161309del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.959_961del | ENSP00000348062.6:p.Lys320del | |
| ENST00000379805.4:c.*630_*632del | ENSP00000369133.3:n.*630_*632del | |
| ENST00000417819.6:c.1022_1024del | ENSP00000404616.2:p.Lys341del | |
| ENST00000423505.6:c.1052_1054del | ENSP00000406473.2:p.Lys351del | |
| ENST00000481733.2:n.733_735del | ||
| ENST00000696704.1:c.*270_*272del | ENSP00000512823.1:n.*270_*272del | |
| ENST00000696705.1:c.*393_*395del | ENSP00000512824.1:n.*393_*395del | |
| ENST00000422285.7:c.938_940del MANE Select | ENSP00000394382.2:p.Lys313del | |
| ENST00000379804.1:c.95_97del | ENSP00000369132.1:p.Lys32del | |
| ENST00000379806.9:c.1052_1054del | ENSP00000369134.5:p.Lys351del | |
| ENST00000422285.6:c.938_940del | ENSP00000394382.2:p.Lys313del | |
| ENST00000478795.1:n.377_379del | ||
| ENST00000481733.1:n.366_368del | ||
| ENST00000540249.5:c.845_847del | ENSP00000440761.1:p.Lys282del | |
| ENST00000545074.5:c.959_961del | ENSP00000438550.1:p.Lys320del | |
| NM_000284.3:c.938_940del | NP_000275.1:p.Lys313del | |
| NM_001173454.1:c.1052_1054del | NP_001166925.1:p.Lys351del | |
| NM_001173455.1:c.959_961del | NP_001166926.1:p.Lys320del | |
| NM_001173456.1:c.845_847del | NP_001166927.1:p.Lys282del | |
| XM_011545531.1:c.1073_1075del | XP_011543833.1:p.Lys358del | |
| XM_011545532.1:c.980_982del | XP_011543834.1:p.Lys327del | |
| XM_017029574.2:c.959_961del | XP_016885063.1:p.Lys320del | |
| NM_000284.4:c.938_940del MANE Select | NP_000275.1:p.Lys313del | |
| NM_001173454.2:c.1052_1054del | NP_001166925.1:p.Lys351del | |
| NM_001173455.2:c.959_961del | NP_001166926.1:p.Lys320del | |
| NM_001173456.2:c.845_847del | NP_001166927.1:p.Lys282del |