Linked Data
ClinVar Variation Id:
555226
ClinVar RCV Id:
RCV000671005
dbSNP Id:
rs1555742834
MyVariant Identifiers:
chr19:g.7533772_7533774del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533772_7533774del , CM000681.2:g.7533772_7533774del | GRCh38 |
| NC_000019.9:g.7598658_7598660del , CM000681.1:g.7598658_7598660del | GRCh37 |
| NC_000019.8:g.7504658_7504660del | NCBI36 |
| NG_013374.1:g.4621_4623del | |
| NG_015806.1:g.16163_16165del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1720_1722del MANE Select | ENSP00000264079.5:p.Glu574del | |
| ENST00000264079.10:c.1720_1722del | ENSP00000264079.5:p.Glu574del | |
| ENST00000394321.9:n.2035_2037del | ||
| ENST00000599334.1:c.448_450del | ||
| ENST00000601870.1:c.73_75del | ||
| ENST00000602227.1:n.274_276del | ||
| NM_020533.2:c.1720_1722del | NP_065394.1:p.Glu574del | |
| NM_020533.3:c.1720_1722del MANE Select | NP_065394.1:p.Glu574del |