Linked Data
ClinVar Variation Id:
4438
ClinVar RCV Id:
RCV003221405
dbSNP Id:
rs113994026
gnomAD v3:
1-44874685-CCA-C
gnomAD v4:
1-44874685-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44874688_44874689del , CM000663.2:g.44874688_44874689del | GRCh38 |
| NC_000001.10:g.45340360_45340361del , CM000663.1:g.45340360_45340361del | GRCh37 |
| NC_000001.9:g.45112947_45112948del | NCBI36 |
| NG_015864.1:g.117003_117004del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360403.7:c.1193_1194del MANE Select | ENSP00000353575.2:p.Val398GlyfsTer? | |
| ENST00000360403.6:c.1193_1194del | ENSP00000353575.2:p.Val398GlyfsTer? | |
| ENST00000372183.7:c.1193_1194del | ENSP00000361257.3:p.Val398GlyfsTer? | |
| ENST00000439363.5:c.655_656del | ||
| ENST00000486491.1:n.145_146del | ||
| ENST00000620860.4:c.1193_1194del | ENSP00000483996.1:p.Val398GlyfsTer7 | |
| NM_001166588.2:c.1193_1194del | NP_001160060.1:p.Val398GlyfsTer? | |
| NM_001261418.1:c.1193_1194del | NP_001248347.1:p.Val398GlyfsTer7 | |
| NM_020365.4:c.1193_1194del | NP_065098.1:p.Val398GlyfsTer? | |
| XM_011542396.1:c.1103_1104del | XP_011540698.1:p.Val368GlyfsTer? | |
| XM_017002745.2:c.1193_1194del | XP_016858234.1:p.Val398GlyfsTer7 | |
| XM_017002746.1:c.806_807del | XP_016858235.1:p.Val269GlyfsTer7 | |
| XM_017002747.1:c.806_807del | XP_016858236.1:p.Val269GlyfsTer? | |
| NM_020365.5:c.1193_1194del MANE Select | NP_065098.1:p.Val398GlyfsTer? | |
| NM_001166588.3:c.1193_1194del | NP_001160060.1:p.Val398GlyfsTer? | |
| NM_001261418.2:c.1193_1194del | NP_001248347.1:p.Val398GlyfsTer7 |