Linked Data
ClinVar Variation Id:
2852963
ClinVar RCV Id:
RCV003757760
dbSNP Id:
rs1380445501
gnomAD v2:
1-245027355-CTCTTCA-C
gnomAD v4:
1-244864053-CTCTTCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864056_244864061del , CM000663.2:g.244864056_244864061del | GRCh38 |
| NC_000001.10:g.245027358_245027363del , CM000663.1:g.245027358_245027363del | GRCh37 |
| NC_000001.9:g.243093981_243093986del | NCBI36 |
| NG_042184.1:g.5467_5472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.249_254del | ENSP00000283179.10:p.Asp83_Glu84del | |
| ENST00000444376.7:c.249_254del | ENSP00000393151.2:p.Asp83_Glu84del | |
| ENST00000476241.2:n.434_439del | ||
| ENST00000638475.1:c.33_38del | ENSP00000491305.1:p.Asp11_Glu12del | |
| ENST00000638952.1:n.480_485del | ||
| ENST00000640218.2:c.249_254del MANE Select | ENSP00000491215.1:p.Asp83_Glu84del | |
| ENST00000640306.1:c.249_254del | ENSP00000491685.1:p.Asp83_Glu84del | |
| ENST00000649899.1:n.473_478del | ||
| ENST00000283179.13:c.249_254del | ENSP00000283179.9:p.Asp83_Glu84del | |
| ENST00000444376.6:c.249_254del | ENSP00000393151.2:p.Asp83_Glu84del | |
| ENST00000476241.1:n.433_438del | ||
| NM_004501.3:c.249_254del | NP_004492.2:p.Asp83_Glu84del | |
| NM_031844.2:c.249_254del | NP_114032.2:p.Asp83_Glu84del | |
| NM_031844.3:c.249_254del MANE Select | NP_114032.2:p.Asp83_Glu84del |