Linked Data
ClinVar Variation Id:
198433
dbSNP Id:
rs794727847
gnomAD v4:
19-41422633-ACGAGGCCC-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422636_41422643del , CM000681.2:g.41422636_41422643del | GRCh38 |
| NC_000019.9:g.41928541_41928548del , CM000681.1:g.41928541_41928548del | GRCh37 |
| NC_000019.8:g.46620381_46620388del | NCBI36 |
| NG_013004.1:g.29848_29855del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.861_868del MANE Select | ENSP00000269980.2:p.Gly288ValfsTer11 | |
| ENST00000269980.6:c.861_868del | ENSP00000269980.2:p.Gly288ValfsTer11 | |
| ENST00000457836.6:c.795_802del | ENSP00000416000.2:p.Gly266ValfsTer11 | |
| ENST00000535632.5:n.490_497del | ||
| ENST00000540732.3:c.963_970del | ENSP00000443246.1:p.Gly322ValfsTer11 | |
| ENST00000542943.5:c.774_781del | ENSP00000440345.1:p.Gly259ValfsTer11 | |
| ENST00000545787.1:n.489_496del | ||
| ENST00000595085.5:c.861_868del | ENSP00000471150.2:p.Gly288ValfsTer11 | |
| NM_000709.3:c.861_868del | NP_000700.1:p.Gly288ValfsTer11 | |
| NM_001164783.1:c.858_865del | NP_001158255.1:p.Gly287ValfsTer11 | |
| NM_000709.4:c.861_868del MANE Select | NP_000700.1:p.Gly288ValfsTer11 | |
| NM_001164783.2:c.858_865del | NP_001158255.1:p.Gly287ValfsTer11 |