Linked Data
ClinVar Variation Id:
166786
dbSNP Id:
rs727503837
gnomAD v2:
15-42680048-AGTTCTGGAGTGCTCT-A
gnomAD v3:
15-42387850-AGTTCTGGAGTGCTCT-A
gnomAD v4:
15-42387850-AGTTCTGGAGTGCTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42387852_42387866del , CM000677.2:g.42387852_42387866del | GRCh38 |
| NC_000015.9:g.42680050_42680064del , CM000677.1:g.42680050_42680064del | GRCh37 |
| NC_000015.8:g.40467342_40467356del | NCBI36 |
| NG_008660.1:g.44750_44764del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.598_612del | ENSP00000183936.4:p.Phe200_Leu204del | |
| ENST00000357568.8:c.598_612del | ENSP00000350181.3:p.Phe200_Leu204del | |
| ENST00000397163.8:c.598_612del MANE Select | ENSP00000380349.3:p.Phe200_Leu204del | |
| ENST00000466369.5:n.1107_1121del | ||
| ENST00000483208.5:n.829_843del | ||
| ENST00000495723.1:n.829_843del | ||
| ENST00000549793.5:n.829_843del | ||
| ENST00000638141.2:n.613_627del | ||
| ENST00000673705.1:c.70+3300_70+3314del | ENSP00000501021.1:n.70+3300_70+3314del | |
| ENST00000318023.11:c.598_612del | ENSP00000326281.8:p.Phe200_Leu204del | |
| ENST00000349748.7:c.598_612del | ENSP00000183936.4:p.Phe200_Leu204del | |
| ENST00000357568.7:c.598_612del | ENSP00000350181.3:p.Phe200_Leu204del | |
| ENST00000397163.7:c.598_612del | ENSP00000380349.3:p.Phe200_Leu204del | |
| NM_000070.2:c.598_612del | NP_000061.1:p.Phe200_Leu204del | |
| NM_024344.1:c.598_612del | NP_077320.1:p.Phe200_Leu204del | |
| NM_173087.1:c.598_612del | NP_775110.1:p.Phe200_Leu204del | |
| NM_000070.3:c.598_612del MANE Select | NP_000061.1:p.Phe200_Leu204del | |
| NM_024344.2:c.598_612del | NP_077320.1:p.Phe200_Leu204del | |
| NM_173087.2:c.598_612del | NP_775110.1:p.Phe200_Leu204del |