Linked Data
ClinVar Variation Id:
52380
ClinVar RCV Id:
RCV000577610
dbSNP Id:
rs397507929
MyVariant Identifiers:
chr13:g.32931936_32931937insAAAC (hg19)
chr13:g.32357799_32357800insAAAC (hg38)
PubMed:
PMID:22486713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32357799_32357800insAAAC , CM000675.2:g.32357799_32357800insAAAC | GRCh38 |
| NC_000013.10:g.32931936_32931937insAAAC , CM000675.1:g.32931936_32931937insAAAC | GRCh37 |
| NC_000013.9:g.31829936_31829937insAAAC | NCBI36 |
| NG_012772.3:g.47320_47321insAAAC , LRG_293:g.47320_47321insAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7675_7676insAAAC | ENSP00000434898.2:p.Ser2559Ter | |
| ENST00000528762.2:c.7675_7676insAAAC | ENSP00000433168.2:p.Ser2559Ter | |
| ENST00000530893.7:c.7306_7307insAAAC | ENSP00000499438.2:p.Ser2436Ter | |
| ENST00000665585.2:c.7675_7676insAAAC | ENSP00000499570.2:p.Ser2559Ter | |
| ENST00000666593.2:c.7675_7676insAAAC | ENSP00000499256.2:p.Ser2559Ter | |
| ENST00000700202.2:c.7675_7676insAAAC | ENSP00000514856.2:p.Ser2559Ter | |
| ENST00000700202.1:c.142_143insAAAC | ENSP00000514856.1:p.Ser48Ter | |
| ENST00000380152.8:c.7675_7676insAAAC MANE Select | ENSP00000369497.3:p.Ser2559Ter | |
| ENST00000544455.6:c.7675_7676insAAAC | ENSP00000439902.1:p.Ser2559Ter | |
| ENST00000614259.2:c.7675_7676insAAAC | ENSP00000506251.1:p.Ser2559Ter | |
| ENST00000665585.1:c.240_241insAAAC | ||
| ENST00000680887.1:c.7675_7676insAAAC | ENSP00000505508.1:p.Ser2559Ter | |
| ENST00000380152.7:c.7675_7676insAAAC | ENSP00000369497.3:p.Ser2559Ter | |
| ENST00000544455.5:c.7675_7676insAAAC | ENSP00000439902.1:p.Ser2559Ter | |
| ENST00000614259.1:n.7675_7676insAAAC | ||
| NM_000059.3:c.7675_7676insAAAC , LRG_293t1:c.7675_7676insAAAC | NP_000050.2:p.Ser2559Ter | |
| XM_011535203.1:c.7675_7676insAAAC | XP_011533505.1:p.Ser2559Ter | |
| XM_011535204.1:c.7579_7580insAAAC | XP_011533506.1:p.Ser2527Ter | |
| XM_011535205.1:c.7675_7676insAAAC | XP_011533507.1:p.Ser2559Ter | |
| NM_000059.4:c.7675_7676insAAAC MANE Select | NP_000050.3:p.Ser2559Ter |