Linked Data
ClinVar Variation Id:
16108
dbSNP Id:
rs80359822
MyVariant Identifiers:
chr1:g.43395364_43395365delinsAC (hg19)
chr1:g.42929693_42929694delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929693_42929694delinsAC , CM000663.2:g.42929693_42929694delinsAC | GRCh38 |
| NC_000001.10:g.43395364_43395365delinsAC , CM000663.1:g.43395364_43395365delinsAC | GRCh37 |
| NC_000001.9:g.43167951_43167952delinsAC | NCBI36 |
| NG_008232.1:g.34483_34484delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.766_767delinsGT MANE Select | ENSP00000416293.2:p.Lys256Val | |
| ENST00000669445.1:c.96_97delinsGT | ||
| ENST00000674765.1:c.766_767delinsGT | ENSP00000501811.1:p.Lys256Val | |
| ENST00000675112.1:n.789_790delinsGT | ||
| ENST00000676254.1:n.1215_1216delinsGT | ||
| ENST00000426263.7:c.766_767delinsGT | ENSP00000416293.2:p.Lys256Val | |
| ENST00000439722.2:c.645_646delinsGT | ENSP00000395521.2:n.645_646delinsGT | |
| ENST00000475162.3:c.415+932_415+933delinsGT | ||
| ENST00000630287.2:c.*81_*82delinsGT | ENSP00000486694.1:n.*81_*82delinsGT | |
| NM_006516.2:c.766_767delinsGT | NP_006507.2:p.Lys256Val | |
| NM_006516.3:c.766_767delinsGT | NP_006507.2:p.Lys256Val | |
| NM_006516.4:c.766_767delinsGT MANE Select | NP_006507.2:p.Lys256Val |