Linked Data
ClinVar Variation Id:
185584
ClinVar RCV Id:
RCV000165028
dbSNP Id:
rs786202291
MyVariant Identifiers:
chr13:g.32905148_32905154delinsT (hg19)
chr13:g.32331011_32331017delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32331011_32331017delinsT , CM000675.2:g.32331011_32331017delinsT | GRCh38 |
| NC_000013.10:g.32905148_32905154delinsT , CM000675.1:g.32905148_32905154delinsT | GRCh37 |
| NC_000013.9:g.31803148_31803154delinsT | NCBI36 |
| NG_012772.3:g.20532_20538delinsT , LRG_293:g.20532_20538delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.774_780delinsT | ENSP00000434898.2:p.Gln258_Glu260delinsHi... | |
| ENST00000528762.2:c.774_780delinsT | ENSP00000433168.2:p.Gln258_Glu260delinsHi... | |
| ENST00000530893.7:c.405_411delinsT | ENSP00000499438.2:p.Gln135_Glu137delinsHi... | |
| ENST00000665585.2:c.774_780delinsT | ENSP00000499570.2:p.Gln258_Glu260delinsHi... | |
| ENST00000666593.2:c.774_780delinsT | ENSP00000499256.2:p.Gln258_Glu260delinsHi... | |
| ENST00000700202.2:c.774_780delinsT | ENSP00000514856.2:p.Gln258_Glu260delinsHi... | |
| ENST00000700201.1:c.*553_*559delinsT | ENSP00000514855.1:n.*553_*559delinsT | |
| ENST00000380152.8:c.774_780delinsT MANE Select | ENSP00000369497.3:p.Gln258_Glu260delinsHi... | |
| ENST00000544455.6:c.774_780delinsT | ENSP00000439902.1:p.Gln258_Glu260delinsHi... | |
| ENST00000614259.2:c.774_780delinsT | ENSP00000506251.1:p.Gln258_Glu260delinsHi... | |
| ENST00000680887.1:c.774_780delinsT | ENSP00000505508.1:p.Gln258_Glu260delinsHi... | |
| ENST00000380152.7:c.774_780delinsT | ENSP00000369497.3:p.Gln258_Glu260delinsHi... | |
| ENST00000530893.6:n.972_978delinsT | ||
| ENST00000544455.5:c.774_780delinsT | ENSP00000439902.1:p.Gln258_Glu260delinsHi... | |
| ENST00000614259.1:n.774_780delinsT | ||
| NM_000059.3:c.774_780delinsT , LRG_293t1:c.774_780delinsT | NP_000050.2:p.Gln258_Glu260delinsHis | |
| XM_011535203.1:c.774_780delinsT | XP_011533505.1:p.Gln258_Glu260delinsHis | |
| XM_011535204.1:c.774_780delinsT | XP_011533506.1:p.Gln258_Glu260delinsHis | |
| XM_011535205.1:c.774_780delinsT | XP_011533507.1:p.Gln258_Glu260delinsHis | |
| NM_000059.4:c.774_780delinsT MANE Select | NP_000050.3:p.Gln258_Glu260delinsHis |