Linked Data
ClinVar Variation Id:
417793
ClinVar RCV Id:
RCV000477719
dbSNP Id:
rs1060505043
PubMed:
PMID:27021811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196318053delinsAG , CM000665.2:g.196318053delinsAG | GRCh38 |
| NC_000003.11:g.196044924delinsAG , CM000665.1:g.196044924delinsAG | GRCh37 |
| NC_000003.10:g.197529321delinsAG | NCBI36 |
| NG_054930.1:g.5242delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325318.10:c.100delinsCT (DYNLT2B) MANE Select | ENSP00000324323.5:p.Val34LeufsTer12 | |
| ENST00000325318.9:c.100delinsCT (DYNLT2B) | ENSP00000324323.5:p.Val34LeufsTer12 | |
| ENST00000426563.5:c.100delinsCT (DYNLT2B) | ENSP00000415835.1:p.Val34LeufsTer? | |
| ENST00000431391.1:c.100delinsCT | ENSP00000405181.1:p.Val34LeufsTer12 | |
| ENST00000442633.1:c.*74-1822delinsCT (TM4SF19-DYNLT2B) | ENSP00000405973.1:n.*74-1822delinsCT | |
| ENST00000446494.1:c.100delinsCT (DYNLT2B) | ENSP00000410605.1:p.Val34LeufsTer12 | |
| NM_152773.4:c.100delinsCT (DYNLT2B) | NP_689986.2:p.Val34LeufsTer12 | |
| NR_037950.1:n.862-1822delinsCT (TM4SF19-DYNLT2B) | ||
| NM_001351628.1:c.100delinsCT (DYNLT2B) | NP_001338557.1:p.Val34LeufsTer12 | |
| NM_152773.5:c.100delinsCT (DYNLT2B) MANE Select | NP_689986.2:p.Val34LeufsTer12 | |
| NM_001351628.2:c.100delinsCT (DYNLT2B) | NP_001338557.1:p.Val34LeufsTer12 |