Linked Data
ClinVar Variation Id:
217159
dbSNP Id:
rs863224965
gnomAD v2:
15-42681132-TGGTTCCTACGAAGCTCTGAAA-T
gnomAD v3:
15-42388934-TGGTTCCTACGAAGCTCTGAAA-T
gnomAD v4:
15-42388934-TGGTTCCTACGAAGCTCTGAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42388938_42388958del , CM000677.2:g.42388938_42388958del | GRCh38 |
| NC_000015.9:g.42681136_42681156del , CM000677.1:g.42681136_42681156del | GRCh37 |
| NC_000015.8:g.40468428_40468448del | NCBI36 |
| NG_008660.1:g.45836_45856del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.643_663del | ENSP00000183936.4:p.Ser215_Gly221del | |
| ENST00000357568.8:c.643_663del | ENSP00000350181.3:p.Ser215_Gly221del | |
| ENST00000397163.8:c.643_663del MANE Select | ENSP00000380349.3:p.Ser215_Gly221del | |
| ENST00000466369.5:n.1152_1172del | ||
| ENST00000483208.5:n.874_894del | ||
| ENST00000495723.1:n.874_894del | ||
| ENST00000549793.5:n.874_894del | ||
| ENST00000638141.2:n.658_678del | ||
| ENST00000673705.1:c.70+4386_70+4406del | ENSP00000501021.1:n.70+4386_70+4406del | |
| ENST00000318023.11:c.643_663del | ENSP00000326281.8:p.Ser215_Gly221del | |
| ENST00000349748.7:c.643_663del | ENSP00000183936.4:p.Ser215_Gly221del | |
| ENST00000357568.7:c.643_663del | ENSP00000350181.3:p.Ser215_Gly221del | |
| ENST00000397163.7:c.643_663del | ENSP00000380349.3:p.Ser215_Gly221del | |
| NM_000070.2:c.643_663del | NP_000061.1:p.Ser215_Gly221del | |
| NM_024344.1:c.643_663del | NP_077320.1:p.Ser215_Gly221del | |
| NM_173087.1:c.643_663del | NP_775110.1:p.Ser215_Gly221del | |
| NM_000070.3:c.643_663del MANE Select | NP_000061.1:p.Ser215_Gly221del | |
| NM_024344.2:c.643_663del | NP_077320.1:p.Ser215_Gly221del | |
| NM_173087.2:c.643_663del | NP_775110.1:p.Ser215_Gly221del |