Linked Data
ClinVar Variation Id:
45091
ClinVar RCV Id:
RCV000038232
dbSNP Id:
rs397517030
MyVariant Identifiers:
chr12:g.33030831_33030863delinsGT (hg19)
chr12:g.32877897_32877929delinsGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32877897_32877929delinsGT , CM000674.2:g.32877897_32877929delinsGT | GRCh38 |
| NC_000012.11:g.33030831_33030863delinsGT , CM000674.1:g.33030831_33030863delinsGT | GRCh37 |
| NC_000012.10:g.32922098_32922130delinsGT | NCBI36 |
| NG_009000.1:g.23918_23950delinsAC , LRG_398:g.23918_23950delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700559.2:c.951_983delinsAC | ENSP00000515065.2:p.His318GlnfsTer24 | |
| ENST00000700563.2:c.951_983delinsAC | ENSP00000515066.2:p.His318GlnfsTer24 | |
| ENST00000700559.1:c.166_198delinsAC | ||
| ENST00000700560.1:n.166_198delinsAC | ||
| ENST00000700561.1:n.292_324delinsAC | ||
| ENST00000700563.1:c.905_937delinsAC | ||
| ENST00000700564.1:n.955_987delinsAC | ||
| ENST00000700565.1:n.804_836delinsAC | ||
| ENST00000070846.11:c.951_983delinsAC | ENSP00000070846.6:p.His318GlnfsTer24 | |
| ENST00000340811.9:c.951_983delinsAC MANE Select | ENSP00000342800.5:p.His318GlnfsTer24 | |
| ENST00000070846.10:c.951_983delinsAC | ENSP00000070846.6:p.His318GlnfsTer24 | |
| ENST00000340811.8:c.951_983delinsAC | ENSP00000342800.4:p.His318GlnfsTer24 | |
| ENST00000613243.1:c.951_983delinsAC | ENSP00000478295.1:p.His318GlnfsTer24 | |
| NM_001005242.2:c.951_983delinsAC | NP_001005242.2:p.His318GlnfsTer24 | |
| NM_004572.3:c.951_983delinsAC , LRG_398t1:c.951_983delinsAC | NP_004563.2:p.His318GlnfsTer24 | |
| NM_001005242.3:c.951_983delinsAC MANE Select | NP_001005242.2:p.His318GlnfsTer24 | |
| NM_004572.4:c.951_983delinsAC | NP_004563.2:p.His318GlnfsTer24 |