Linked Data
ClinVar Variation Id:
1205030
dbSNP Id:
rs71838494
ExAC:
14:95566068 TACAC / T
gnomAD v2:
14-95566068-TACAC-T
gnomAD v3:
14-95099731-TACAC-T
gnomAD v4:
14-95099731-TACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95099769_95099772del , CM000676.2:g.95099769_95099772del | GRCh38 |
| NC_000014.8:g.95566106_95566109del , CM000676.1:g.95566106_95566109del | GRCh37 |
| NC_000014.7:g.94635859_94635862del | NCBI36 |
| NG_016311.1:g.62688_62691del , LRG_492:g.62688_62691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.4206+45_4206+48del | ENSP00000433926.2:n.4206+45_4206+48del | |
| ENST00000531162.7:c.4206+45_4206+48del | ENSP00000433060.3:n.4206+45_4206+48del | |
| ENST00000674628.2:c.4206+45_4206+48del | ENSP00000502730.2:n.4206+45_4206+48del | |
| ENST00000675540.2:c.*856+45_*856+48del | ENSP00000501988.2:n.*856+45_*856+48del | |
| ENST00000696733.1:c.4206+45_4206+48del | ENSP00000512838.1:n.4206+45_4206+48del | |
| ENST00000696734.1:c.4206+45_4206+48del | ENSP00000512839.1:n.4206+45_4206+48del | |
| ENST00000696735.1:n.1193+45_1193+48del | ||
| ENST00000696736.1:c.4206+45_4206+48del | ENSP00000512840.1:n.4206+45_4206+48del | |
| ENST00000696737.1:c.4206+45_4206+48del | ENSP00000512841.1:n.4206+45_4206+48del | |
| ENST00000696920.1:n.4469+45_4469+48del | ||
| ENST00000696921.1:n.5312+45_5312+48del | ||
| ENST00000696922.1:n.4615+45_4615+48del | ||
| ENST00000696923.1:c.4206+45_4206+48del | ENSP00000512976.1:n.4206+45_4206+48del | |
| ENST00000696924.1:c.4206+45_4206+48del | ENSP00000512977.1:n.4206+45_4206+48del | |
| ENST00000696925.1:n.4615+45_4615+48del | ||
| ENST00000343455.8:c.4206+45_4206+48del MANE Select | ENSP00000343745.3:n.4206+45_4206+48del | |
| ENST00000393063.6:c.4206+45_4206+48del | ENSP00000376783.1:n.4206+45_4206+48del | |
| ENST00000526495.6:c.4206+45_4206+48del | ENSP00000437256.1:n.4206+45_4206+48del | |
| ENST00000532939.3:c.4206+45_4206+48del | ENSP00000452556.2:n.4206+45_4206+48del | |
| ENST00000556045.6:c.4206+45_4206+48del | ENSP00000451041.2:n.4206+45_4206+48del | |
| ENST00000675540.1:c.1951+45_1951+48del | ENSP00000501988.1:n.1951+45_1951+48del | |
| ENST00000675995.1:c.*2522+45_*2522+48del | ENSP00000502591.1:n.*2522+45_*2522+48del | |
| ENST00000343455.7:c.4206+45_4206+48del | ENSP00000343745.3:n.4206+45_4206+48del | |
| ENST00000393063.5:c.4206+45_4206+48del | ENSP00000376783.1:n.4206+45_4206+48del | |
| ENST00000526495.5:c.4206+45_4206+48del | ENSP00000437256.1:n.4206+45_4206+48del | |
| ENST00000527414.5:c.4206+45_4206+48del | ENSP00000435681.1:n.4206+45_4206+48del | |
| ENST00000532939.2:c.241+45_241+48del | ||
| ENST00000541352.5:c.4206+45_4206+48del | ENSP00000444719.1:n.4206+45_4206+48del | |
| ENST00000556045.5:c.900+45_900+48del | ENSP00000451041.1:n.900+45_900+48del | |
| NM_001195573.1:c.4206+45_4206+48del | NP_001182502.1:n.4206+45_4206+48del | |
| NM_001271282.2:c.4206+45_4206+48del | NP_001258211.1:n.4206+45_4206+48del | |
| NM_001291628.1:c.4206+45_4206+48del | NP_001278557.1:n.4206+45_4206+48del | |
| NM_030621.4:c.4206+45_4206+48del | NP_085124.2:n.4206+45_4206+48del | |
| NM_177438.2:c.4206+45_4206+48del , LRG_492t1:c.4206+45_4206+48del | NP_803187.1:n.4206+45_4206+48del | |
| XM_011536599.1:c.4206+45_4206+48del | XP_011534901.1:n.4206+45_4206+48del | |
| XM_011536600.1:c.4206+45_4206+48del | XP_011534902.1:n.4206+45_4206+48del | |
| XM_011536601.1:c.4206+45_4206+48del | XP_011534903.1:n.4206+45_4206+48del | |
| XM_011536602.1:c.4206+45_4206+48del | XP_011534904.1:n.4206+45_4206+48del | |
| XM_011536603.1:c.4206+45_4206+48del | XP_011534905.1:n.4206+45_4206+48del | |
| XM_011536604.1:c.3801+45_3801+48del | XP_011534906.1:n.3801+45_3801+48del | |
| XM_011536605.1:c.2727+45_2727+48del | XP_011534907.1:n.2727+45_2727+48del | |
| XM_011536599.2:c.4206+45_4206+48del | XP_011534901.1:n.4206+45_4206+48del | |
| XM_011536600.3:c.4206+45_4206+48del | XP_011534902.1:n.4206+45_4206+48del | |
| XM_011536601.3:c.4206+45_4206+48del | XP_011534903.1:n.4206+45_4206+48del | |
| XM_011536602.3:c.4206+45_4206+48del | XP_011534904.1:n.4206+45_4206+48del | |
| XM_011536604.2:c.3801+45_3801+48del | XP_011534906.1:n.3801+45_3801+48del | |
| XM_011536605.2:c.2727+45_2727+48del | XP_011534907.1:n.2727+45_2727+48del | |
| XM_017021120.2:c.4206+45_4206+48del | XP_016876609.1:n.4206+45_4206+48del | |
| XM_017021121.2:c.4206+45_4206+48del | XP_016876610.1:n.4206+45_4206+48del | |
| XM_017021122.2:c.3801+45_3801+48del | XP_016876611.1:n.3801+45_3801+48del | |
| XM_017021123.2:c.3801+45_3801+48del | XP_016876612.1:n.3801+45_3801+48del | |
| NM_001271282.3:c.4206+45_4206+48del | NP_001258211.1:n.4206+45_4206+48del | |
| NM_001291628.2:c.4206+45_4206+48del | NP_001278557.1:n.4206+45_4206+48del | |
| NM_177438.3:c.4206+45_4206+48del MANE Select | NP_803187.1:n.4206+45_4206+48del | |
| NM_001395677.1:c.4206+45_4206+48del | NP_001382606.1:n.4206+45_4206+48del | |
| NM_001395678.1:c.4206+45_4206+48del | NP_001382607.1:n.4206+45_4206+48del | |
| NM_001395679.1:c.4206+45_4206+48del | NP_001382608.1:n.4206+45_4206+48del | |
| NM_001395680.1:c.4206+45_4206+48del | NP_001382609.1:n.4206+45_4206+48del | |
| NM_001395682.1:c.4206+45_4206+48del | NP_001382611.1:n.4206+45_4206+48del | |
| NM_001395683.1:c.4206+45_4206+48del | NP_001382612.1:n.4206+45_4206+48del | |
| NM_001395684.1:c.4206+45_4206+48del | NP_001382613.1:n.4206+45_4206+48del | |
| NM_001395685.1:c.4206+45_4206+48del | NP_001382614.1:n.4206+45_4206+48del | |
| NM_001395686.1:c.3924+45_3924+48del | NP_001382615.1:n.3924+45_3924+48del | |
| NM_001395687.1:c.3801+45_3801+48del | NP_001382616.1:n.3801+45_3801+48del | |
| NM_001395688.1:c.3801+45_3801+48del | NP_001382617.1:n.3801+45_3801+48del | |
| NM_001395689.1:c.3801+45_3801+48del | NP_001382618.1:n.3801+45_3801+48del | |
| NM_001395690.1:c.3801+45_3801+48del | NP_001382619.1:n.3801+45_3801+48del | |
| NM_001395691.1:c.3639+45_3639+48del | NP_001382620.1:n.3639+45_3639+48del | |
| NM_001395692.1:c.4206+45_4206+48del | NP_001382621.1:n.4206+45_4206+48del | |
| NM_001395693.1:c.4206+45_4206+48del | NP_001382622.1:n.4206+45_4206+48del | |
| NM_001395694.1:c.4206+45_4206+48del | NP_001382623.1:n.4206+45_4206+48del | |
| NM_001395695.1:c.4206+45_4206+48del | NP_001382624.1:n.4206+45_4206+48del | |
| NM_001395696.1:c.3801+45_3801+48del | NP_001382625.1:n.3801+45_3801+48del | |
| NM_001395697.1:c.2523+45_2523+48del | NP_001382626.1:n.2523+45_2523+48del | |
| NR_172715.1:n.4624+45_4624+48del | ||
| NR_172716.1:n.4808+45_4808+48del | ||
| NR_172717.1:n.4718+45_4718+48del | ||
| NR_172718.1:n.4641+45_4641+48del | ||
| NR_172719.1:n.4474+45_4474+48del | ||
| NR_172720.1:n.4551+45_4551+48del |