Linked Data
ClinVar Variation Id:
226
ClinVar RCV Id:
RCV000000250
dbSNP Id:
rs386833418
MyVariant Identifiers:
chr4:g.178363402_178363403insCCGCAT (hg19)
chr4:g.177442248_177442249insCCGCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442249_177442250insCGCATC , CM000666.2:g.177442249_177442250insCGCATC | GRCh38 |
| NC_000004.11:g.178363403_178363404insCGCATC , CM000666.1:g.178363403_178363404insCGCATC | GRCh37 |
| NC_000004.10:g.178600397_178600398insCGCATC | NCBI36 |
| NG_011845.2:g.5255_5256insATGCGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.127_127+1insATGCGG MANE Select | ENSP00000264595.2:p.Ala42_Ala43insAspAla | |
| ENST00000264595.6:c.127_127+1insATGCGG | ENSP00000264595.2:p.Ala42_Ala43insAspAla | |
| ENST00000506853.5:n.161_161+1insATGCGG | ||
| ENST00000510955.5:n.161_161+1insATGCGG | ||
| ENST00000511231.1:n.161_161+1insATGCGG | ||
| NM_000027.3:c.127_127+1insATGCGG | NP_000018.2:p.Ala42_Ala43insAspAla | |
| NM_001171988.1:c.127_127+1insATGCGG | NP_001165459.1:p.Ala42_Ala43insAspAla | |
| NR_033655.1:n.255_255+1insATGCGG | ||
| XM_006714123.2:c.127_127+1insATGCGG | XP_006714186.1:p.Ala42_Ala43insAspAla | |
| XR_001741155.2:n.221_221+1insATGCGG | ||
| NM_000027.4:c.127_127+1insATGCGG MANE Select | NP_000018.2:p.Ala42_Ala43insAspAla | |
| NM_001171988.2:c.127_127+1insATGCGG | NP_001165459.1:p.Ala42_Ala43insAspAla | |
| NR_033655.2:n.189_189+1insATGCGG |