Linked Data
ClinVar Variation Id:
52007
ClinVar RCV Id:
RCV000077368
RCV000131112
RCV000235143
RCV000496338
RCV000735580
RCV001353595
RCV003473369
dbSNP Id:
rs80359558
ExAC:
13:32914569 CAAGAG / C
gnomAD v2:
13-32914569-CAAGAG-C
gnomAD v4:
13-32340432-CAAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32340437_32340441del , CM000675.2:g.32340437_32340441del | GRCh38 |
| NC_000013.10:g.32914574_32914578del , CM000675.1:g.32914574_32914578del | GRCh37 |
| NC_000013.9:g.31812574_31812578del | NCBI36 |
| NG_012772.3:g.29958_29962del , LRG_293:g.29958_29962del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.6082_6086del | ENSP00000434898.2:p.Glu2028LysfsTer19 | |
| ENST00000528762.2:c.6082_6086del | ENSP00000433168.2:p.Glu2028LysfsTer19 | |
| ENST00000530893.7:c.5713_5717del | ENSP00000499438.2:p.Glu1905LysfsTer19 | |
| ENST00000665585.2:c.6082_6086del | ENSP00000499570.2:p.Glu2028LysfsTer19 | |
| ENST00000666593.2:c.6082_6086del | ENSP00000499256.2:p.Glu2028LysfsTer19 | |
| ENST00000700202.2:c.6082_6086del | ENSP00000514856.2:p.Glu2028LysfsTer19 | |
| ENST00000380152.8:c.6082_6086del MANE Select | ENSP00000369497.3:p.Glu2028LysfsTer19 | |
| ENST00000544455.6:c.6082_6086del | ENSP00000439902.1:p.Glu2028LysfsTer19 | |
| ENST00000614259.2:c.6082_6086del | ENSP00000506251.1:p.Glu2028LysfsTer19 | |
| ENST00000680887.1:c.6082_6086del | ENSP00000505508.1:p.Glu2028LysfsTer19 | |
| ENST00000380152.7:c.6082_6086del | ENSP00000369497.3:p.Glu2028LysfsTer19 | |
| ENST00000544455.5:c.6082_6086del | ENSP00000439902.1:p.Glu2028LysfsTer19 | |
| ENST00000614259.1:n.6082_6086del | ||
| NM_000059.3:c.6082_6086del , LRG_293t1:c.6082_6086del | NP_000050.2:p.Glu2028LysfsTer19 | |
| XM_011535203.1:c.6082_6086del | XP_011533505.1:p.Glu2028LysfsTer19 | |
| XM_011535204.1:c.6082_6086del | XP_011533506.1:p.Glu2028LysfsTer19 | |
| XM_011535205.1:c.6082_6086del | XP_011533507.1:p.Glu2028LysfsTer19 | |
| NM_000059.4:c.6082_6086del MANE Select | NP_000050.3:p.Glu2028LysfsTer19 |