Linked Data
ClinVar Variation Id:
189711
ClinVar RCV Id:
RCV000170206
dbSNP Id:
rs1557135461
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030640_154031341del , CM000685.2:g.154030640_154031341del | GRCh38 |
| NC_000023.10:g.153296091_153296792del , CM000685.1:g.153296091_153296792del | GRCh37 |
| NC_000023.9:g.152949285_152949986del | NCBI36 |
| NG_007107.2:g.110788_111489del | |
| NG_007107.3:g.110764_111465del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.488_1189del MANE Plus Clinical | ENSP00000301948.6:p.Gly163_Ser396del | |
| ENST00000453960.7:c.524_1225del MANE Select | ENSP00000395535.2:p.Gly175_Ser408del | |
| ENST00000303391.10:c.488_1189del | ENSP00000301948.6:p.Gly163_Ser396del | |
| ENST00000407218.5:c.469-54_*561del | ||
| ENST00000453960.6:c.524_1225del | ENSP00000395535.2:p.Gly175_Ser408del | |
| ENST00000619732.4:c.488_1189del | ENSP00000480973.1:p.Gly163_Ser396del | |
| ENST00000628176.2:c.433-54_*561del | ||
| NM_001110792.1:c.524_1225del | NP_001104262.1:p.Gly175_Ser408del | |
| NM_001316337.1:c.209_910del | NP_001303266.1:p.Gly70_Ser303del | |
| NM_004992.3:c.488_1189del | NP_004983.1:p.Gly163_Ser396del | |
| XM_005274681.3:c.488_1189del | XP_005274738.1:p.Gly163_Ser396del | |
| XM_005274682.3:c.209_910del | XP_005274739.1:p.Gly70_Ser303del | |
| XM_005274683.3:c.209_910del | XP_005274740.1:p.Gly70_Ser303del | |
| XM_006724819.2:c.-128-54_520del | ||
| XM_011531166.1:c.209_910del | XP_011529468.1:p.Gly70_Ser303del | |
| XM_006724819.3:c.-128-54_520del | ||
| XM_011531166.2:c.209_910del | XP_011529468.1:p.Gly70_Ser303del | |
| XM_024452383.1:c.209_910del | XP_024308151.1:p.Gly70_Ser303del | |
| XM_024452384.1:c.209_910del | XP_024308152.1:p.Gly70_Ser303del | |
| NM_001110792.2:c.524_1225del MANE Select | NP_001104262.1:p.Gly175_Ser408del | |
| NM_001316337.2:c.209_910del | NP_001303266.1:p.Gly70_Ser303del | |
| NM_001369391.2:c.209_910del | NP_001356320.1:p.Gly70_Ser303del | |
| NM_001369392.2:c.209_910del | NP_001356321.1:p.Gly70_Ser303del | |
| NM_001369393.2:c.209_910del | NP_001356322.1:p.Gly70_Ser303del | |
| NM_001369394.1:c.209_910del | NP_001356323.1:p.Gly70_Ser303del | |
| NM_001369394.2:c.209_910del | NP_001356323.1:p.Gly70_Ser303del | |
| NM_001386137.1:c.-128-54_520del | ||
| NM_001386138.1:c.-128-54_520del | ||
| NM_001386139.1:c.-128-54_520del | ||
| NM_004992.4:c.488_1189del MANE Plus Clinical | NP_004983.1:p.Gly163_Ser396del |