Linked Data
ClinVar Variation Id:
4358
ClinVar RCV Id:
RCV000004606
dbSNP Id:
rs587776589
MyVariant Identifiers:
chr19:g.54128346_54128356del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54128346_54128356del , CM000681.2:g.54128346_54128356del | GRCh38 |
| NC_000019.8:g.59323533_59323543del | NCBI36 |
| NG_009759.1:g.17932_17942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.1115_1125del MANE Select | ENSP00000324122.4:p.Arg372GlnfsTer? | |
| ENST00000321030.8:c.1115_1125del | ENSP00000324122.4:p.Arg372GlnfsTer? | |
| ENST00000391755.1:c.1097_1107del | ENSP00000375635.1:p.Arg366GlnfsTer? | |
| ENST00000419967.5:c.1115_1125del | ENSP00000405166.2:p.Arg372GlnfsTer? | |
| ENST00000466404.5:n.1089_1099del | ||
| NM_015629.3:c.1115_1125del | NP_056444.3:p.Arg372GlnfsTer? | |
| XM_006723137.2:c.1115_1125del | XP_006723200.1:p.Arg372GlnfsTer? | |
| XR_935789.1:n.1192_1202del | ||
| XM_006723137.4:c.1115_1125del | XP_006723200.1:p.Arg372GlnfsTer? | |
| XR_002958293.1:n.1273_1283del | ||
| XR_935789.3:n.1204_1214del | ||
| NM_015629.4:c.1115_1125del MANE Select | NP_056444.3:p.Arg372GlnfsTer? |