Linked Data
ClinVar Variation Id:
10313
ClinVar RCV Id:
RCV000011026
dbSNP Id:
rs387906463
PubMed:
PMID:1923751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863194_154863195del , CM000685.2:g.154863194_154863195del | GRCh38 |
| NC_000023.10:g.154091469_154091470del , CM000685.1:g.154091469_154091470del | GRCh37 |
| NC_000023.9:g.153744663_153744664del | NCBI36 |
| NG_011403.1:g.164531_164532del | |
| NG_011403.2:g.164531_164532del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6464_6465del MANE Select | ENSP00000353393.4:p.Lys2155ThrfsTer5 | |
| ENST00000644698.1:c.197_198del | ENSP00000495706.1:p.Lys66ThrfsTer5 | |
| ENST00000330287.10:c.59_60del | ENSP00000327895.6:p.Lys20ThrfsTer5 | |
| ENST00000360256.8:c.6464_6465del | ENSP00000353393.4:p.Lys2155ThrfsTer5 | |
| NM_000132.3:c.6464_6465del | NP_000123.1:p.Lys2155ThrfsTer5 | |
| NM_019863.2:c.59_60del | NP_063916.1:p.Lys20ThrfsTer5 | |
| XM_011531126.1:c.6359_6360del | XP_011529428.1:p.Lys2120ThrfsTer5 | |
| NM_000132.4:c.6464_6465del MANE Select | NP_000123.1:p.Lys2155ThrfsTer5 | |
| NM_019863.3:c.59_60del | NP_063916.1:p.Lys20ThrfsTer5 |