Linked Data
ClinVar Variation Id:
95178
ClinVar RCV Id:
RCV000081184
dbSNP Id:
rs398124185
gnomAD v3:
4-154749029-C-CT
gnomAD v4:
4-154749029-C-CT
MyVariant Identifiers:
chr4:g.155670183dup (hg19)
chr4:g.155670183dupT (hg19)
chr4:g.154749031dupT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154749031dup , CM000666.2:g.154749031dup | GRCh38 |
| NC_000004.11:g.155670183dup , CM000666.1:g.155670183dup | GRCh37 |
| NC_000004.10:g.155889633dup | NCBI36 |
| NG_009110.1:g.10021dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.588dup MANE Select | ENSP00000337224.3:p.Ala197CysfsTer? | |
| ENST00000336356.3:c.588dup | ENSP00000337224.3:p.Ala197CysfsTer? | |
| ENST00000502474.5:n.383dup | ||
| ENST00000507827.5:c.588dup | ENSP00000426761.1:p.Ala197CysfsTer? | |
| ENST00000510733.1:n.915dup | ||
| ENST00000510919.1:n.344dup | ||
| NM_001301645.1:c.588dup | NP_001288574.1:p.Ala197CysfsTer? | |
| NM_004744.4:c.588dup | NP_004735.2:p.Ala197CysfsTer? | |
| XM_006714412.2:c.588dup | XP_006714475.1:p.Ala197CysfsTer? | |
| XR_938793.1:n.1124dup | ||
| XR_938793.2:n.1120dup | ||
| NM_004744.5:c.588dup MANE Select | NP_004735.2:p.Ala197CysfsTer? | |
| NM_001301645.2:c.588dup | NP_001288574.1:p.Ala197CysfsTer? |