Linked Data
ClinVar Variation Id:
38221
ClinVar RCV Id:
RCV000031804
RCV000235872
RCV000509633
RCV000507914
RCV000502775
RCV000735622
RCV001007952
RCV002504847
RCV004532467
RCV003473228
dbSNP Id:
rs397507422
ExAC:
13:32954260 CG / C
gnomAD v2:
13-32954260-CG-C
gnomAD v3:
13-32380123-CG-C
gnomAD v4:
13-32380123-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380124del , CM000675.2:g.32380124del | GRCh38 |
| NC_000013.10:g.32954261del , CM000675.1:g.32954261del | GRCh37 |
| NC_000013.9:g.31852261del | NCBI36 |
| NG_012772.3:g.69645del , LRG_293:g.69645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9235del | ENSP00000434898.2:p.Val3079PhefsTer4 | |
| ENST00000528762.2:c.*602del | ENSP00000433168.2:n.*602del | |
| ENST00000530893.7:c.8866del | ENSP00000499438.2:p.Val2956PhefsTer4 | |
| ENST00000665585.2:c.*797del | ENSP00000499570.2:n.*797del | |
| ENST00000666593.2:c.9235del | ENSP00000499256.2:p.Val3079PhefsTer4 | |
| ENST00000700202.2:c.9184del | ENSP00000514856.2:p.Val3062PhefsTer4 | |
| ENST00000700202.1:c.1651del | ENSP00000514856.1:p.Val551PhefsTer4 | |
| ENST00000700203.1:n.1362del | ||
| ENST00000380152.8:c.9235del MANE Select | ENSP00000369497.3:p.Val3079PhefsTer4 | |
| ENST00000544455.6:c.9235del | ENSP00000439902.1:p.Val3079PhefsTer4 | |
| ENST00000614259.2:c.9243del | ENSP00000506251.1:n.9243del | |
| ENST00000665585.1:c.2113del | ||
| ENST00000666593.1:c.118del | ENSP00000499256.1:p.Val40PhefsTer4 | |
| ENST00000680887.1:c.9235del | ENSP00000505508.1:p.Val3079PhefsTer4 | |
| ENST00000380152.7:c.9235del | ENSP00000369497.3:p.Val3079PhefsTer4 | |
| ENST00000470094.1:c.192del | ||
| ENST00000544455.5:c.9235del | ENSP00000439902.1:p.Val3079PhefsTer4 | |
| NM_000059.3:c.9235del , LRG_293t1:c.9235del | NP_000050.2:p.Val3079PhefsTer4 | |
| XM_011535203.1:c.9235del | XP_011533505.1:p.Val3079PhefsTer4 | |
| XM_011535204.1:c.9139del | XP_011533506.1:p.Val3047PhefsTer4 | |
| NM_000059.4:c.9235del MANE Select | NP_000050.3:p.Val3079PhefsTer4 |