Linked Data
ClinVar Variation Id:
15919
ClinVar RCV Id:
RCV000057075
dbSNP Id:
rs59169454
MyVariant Identifiers:
chr12:g.53069302_53069303delinsT (hg19)
chr12:g.52675518_52675519delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675518_52675519delinsT , CM000674.2:g.52675518_52675519delinsT | GRCh38 |
| NC_000012.11:g.53069302_53069303delinsT , CM000674.1:g.53069302_53069303delinsT | GRCh37 |
| NC_000012.10:g.51355569_51355570delinsT | NCBI36 |
| NG_008364.1:g.9889_9890delinsA | |
| NG_008364.2:g.9889_9890delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252244.3:c.1609_1610delinsA MANE Select | ENSP00000252244.3:p.Gly537IlefsTer? | |
| NM_006121.3:c.1609_1610delinsA | NP_006112.3:p.Gly537IlefsTer? | |
| NM_006121.4:c.1609_1610delinsA MANE Select | NP_006112.3:p.Gly537IlefsTer? |