Linked Data
ClinVar Variation Id:
553786
ClinVar RCV Id:
RCV000669303
dbSNP Id:
rs1553994762
MyVariant Identifiers:
chr4:g.177439660_177439662del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439662_177439664del , CM000666.2:g.177439662_177439664del | GRCh38 |
| NC_000004.11:g.178360816_178360818del , CM000666.1:g.178360816_178360818del | GRCh37 |
| NC_000004.10:g.178597810_178597812del | NCBI36 |
| NG_011845.2:g.7842_7844del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.308_310del MANE Select | ENSP00000264595.2:p.Gly103del | |
| ENST00000264595.6:c.308_310del | ENSP00000264595.2:p.Gly103del | |
| ENST00000506853.5:n.342_344del | ||
| ENST00000510635.1:c.4_6del | ||
| ENST00000510955.5:n.315+611_315+613del | ||
| NM_000027.3:c.308_310del | NP_000018.2:p.Gly103del | |
| NM_001171988.1:c.308_310del | NP_001165459.1:p.Gly103del | |
| NR_033655.1:n.436_438del | ||
| XM_006714123.2:c.308_310del | XP_006714186.1:p.Gly103del | |
| XR_001741155.2:n.402_404del | ||
| NM_000027.4:c.308_310del MANE Select | NP_000018.2:p.Gly103del | |
| NM_001171988.2:c.308_310del | NP_001165459.1:p.Gly103del | |
| NR_033655.2:n.370_372del |