Linked Data
ClinVar Variation Id:
51684
ClinVar RCV Id:
RCV000077331
RCV000219738
RCV000496770
RCV000657805
RCV001257546
RCV001271038
RCV003460584
RCV001535691
dbSNP Id:
rs80359459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32326137_32326138del , CM000675.2:g.32326137_32326138del | GRCh38 |
| NC_000013.10:g.32900274_32900275del , CM000675.1:g.32900274_32900275del | GRCh37 |
| NC_000013.9:g.31798274_31798275del | NCBI36 |
| NG_012772.3:g.15658_15659del , LRG_293:g.15658_15659del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.462_463del | ENSP00000434898.2:p.Asp156Ter | |
| ENST00000528762.2:c.462_463del | ENSP00000433168.2:p.Asp156Ter | |
| ENST00000530893.7:c.93_94del | ENSP00000499438.2:p.Asp33Ter | |
| ENST00000665585.2:c.462_463del | ENSP00000499570.2:p.Asp156Ter | |
| ENST00000666593.2:c.462_463del | ENSP00000499256.2:p.Asp156Ter | |
| ENST00000700202.2:c.462_463del | ENSP00000514856.2:p.Asp156Ter | |
| ENST00000700200.1:n.333_334del | ||
| ENST00000700201.1:c.*241_*242del | ENSP00000514855.1:n.*241_*242del | |
| ENST00000380152.8:c.462_463del MANE Select | ENSP00000369497.3:p.Asp156Ter | |
| ENST00000544455.6:c.462_463del | ENSP00000439902.1:p.Asp156Ter | |
| ENST00000614259.2:c.462_463del | ENSP00000506251.1:p.Asp156Ter | |
| ENST00000680887.1:c.462_463del | ENSP00000505508.1:p.Asp156Ter | |
| ENST00000380152.7:c.462_463del | ENSP00000369497.3:p.Asp156Ter | |
| ENST00000530893.6:n.660_661del | ||
| ENST00000544455.5:c.462_463del | ENSP00000439902.1:p.Asp156Ter | |
| ENST00000614259.1:n.462_463del | ||
| NM_000059.3:c.462_463del , LRG_293t1:c.462_463del | NP_000050.2:p.Asp156Ter | |
| XM_011535203.1:c.462_463del | XP_011533505.1:p.Asp156Ter | |
| XM_011535204.1:c.462_463del | XP_011533506.1:p.Asp156Ter | |
| XM_011535205.1:c.462_463del | XP_011533507.1:p.Asp156Ter | |
| NM_000059.4:c.462_463del MANE Select | NP_000050.3:p.Asp156Ter |