Linked Data
ClinVar Variation Id:
1722455
dbSNP Id:
rs1386317763
gnomAD v2:
20-13782320-TCTGA-T
gnomAD v4:
20-13801674-TCTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801678_13801681del , CM000682.2:g.13801678_13801681del | GRCh38 |
| NC_000020.10:g.13782324_13782327del , CM000682.1:g.13782324_13782327del | GRCh37 |
| NC_000020.9:g.13730324_13730327del | NCBI36 |
| NG_015811.1:g.21653_21656del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.712_715del MANE Select | ENSP00000367346.5:p.Thr238TrpfsTer16 | |
| ENST00000378081.9:c.712_715del | ENSP00000437325.1:p.Thr238TrpfsTer16 | |
| ENST00000378106.9:c.712_715del | ENSP00000367346.5:p.Thr238TrpfsTer16 | |
| ENST00000463598.1:c.628_631del | ENSP00000420497.1:p.Thr210TrpfsTer16 | |
| ENST00000464269.5:n.385_388del | ||
| ENST00000475968.5:n.589_592del | ||
| ENST00000476124.1:n.111_114del | ||
| ENST00000476536.5:n.672_675del | ||
| ENST00000477732.5:n.502+3178_502+3181del | ||
| ENST00000479716.5:n.233_236del | ||
| ENST00000481249.5:n.589_592del | ||
| ENST00000485738.5:n.689_692del | ||
| ENST00000487478.5:n.136_139del | ||
| NM_001039375.2:c.628_631del | NP_001034464.1:p.Thr210TrpfsTer16 | |
| NM_024120.4:c.712_715del | NP_077025.2:p.Thr238TrpfsTer16 | |
| NR_029377.1:n.755_758del | ||
| XM_006723620.2:c.712_715del | XP_006723683.1:p.Thr238TrpfsTer5 | |
| XM_006723622.2:c.241_244del | XP_006723685.1:p.Thr81TrpfsTer16 | |
| XM_006723623.1:c.241_244del | XP_006723686.1:p.Thr81TrpfsTer16 | |
| XM_006723624.1:c.241_244del | XP_006723687.1:p.Thr81TrpfsTer16 | |
| XM_011529341.1:c.712_715del | XP_011527643.1:p.Thr238TrpfsTer16 | |
| XM_011529342.1:c.712_715del | XP_011527644.1:p.Thr238Ter | |
| XM_011529343.1:c.712_715del | XP_011527645.1:p.Thr238TrpfsTer16 | |
| XM_011529344.1:c.343_346del | XP_011527646.1:p.Thr115TrpfsTer16 | |
| XR_430269.2:n.732_735del | ||
| XR_937140.1:n.732_735del | ||
| NM_001352403.1:c.241_244del | NP_001339332.1:p.Thr81TrpfsTer16 | |
| NM_001352406.1:c.151_154del | NP_001339335.1:p.Thr51TrpfsTer16 | |
| NM_001352407.1:c.151_154del | NP_001339336.1:p.Thr51TrpfsTer16 | |
| NM_001352408.1:c.712_715del | NP_001339337.1:p.Thr238TrpfsTer5 | |
| NR_147978.1:n.755_758del | ||
| NR_147979.1:n.775_778del | ||
| NR_147980.1:n.651_654del | ||
| NR_147981.1:n.889_892del | ||
| NR_147982.1:n.889_892del | ||
| NR_147983.1:n.805_808del | ||
| XM_006723624.2:c.241_244del | XP_006723687.1:p.Thr81TrpfsTer16 | |
| XM_011529342.2:c.712_715del | XP_011527644.1:p.Thr238Ter | |
| XM_024451999.1:c.241_244del | XP_024307767.1:p.Thr81TrpfsTer16 | |
| XR_001754396.1:n.671_674del | ||
| XR_430269.3:n.732_735del | ||
| XR_937140.2:n.732_735del | ||
| NM_024120.5:c.712_715del MANE Select | NP_077025.2:p.Thr238TrpfsTer16 | |
| NM_001039375.3:c.628_631del | NP_001034464.1:p.Thr210TrpfsTer16 | |
| NM_001352403.2:c.241_244del | NP_001339332.1:p.Thr81TrpfsTer16 | |
| NM_001352406.2:c.151_154del | NP_001339335.1:p.Thr51TrpfsTer16 | |
| NM_001352407.2:c.151_154del | NP_001339336.1:p.Thr51TrpfsTer16 | |
| NR_029377.2:n.753_756del | ||
| NR_147978.2:n.753_756del | ||
| NR_147979.2:n.773_776del | ||
| NR_147980.2:n.649_652del | ||
| NR_147981.2:n.887_890del | ||
| NR_147982.2:n.887_890del | ||
| NR_147983.2:n.803_806del | ||
| NM_001352408.2:c.712_715del | NP_001339337.1:p.Thr238TrpfsTer5 |