Linked Data
ClinVar Variation Id:
237032
dbSNP Id:
rs878853660
gnomAD v2:
16-89858886-TAC-T
gnomAD v3:
16-89792478-TAC-T
gnomAD v4:
16-89792478-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89792480_89792481del , CM000678.2:g.89792480_89792481del | GRCh38 |
| NC_000016.9:g.89858888_89858889del , CM000678.1:g.89858888_89858889del | GRCh37 |
| NC_000016.8:g.88386389_88386390del | NCBI36 |
| NG_011706.1:g.29178_29179del , LRG_495:g.29178_29179del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561667.2:c.1074_1075del | ENSP00000512522.1:p.Tyr359ProfsTer? | |
| ENST00000563767.2:n.969_970del | ||
| ENST00000564475.6:c.1074_1075del | ENSP00000454977.2:p.Tyr359ProfsTer? | |
| ENST00000567205.2:c.1074_1075del | ENSP00000457027.2:p.Tyr359ProfsTer? | |
| ENST00000567284.7:n.1117_1118del | ||
| ENST00000567621.6:c.*61_*62del | ENSP00000456762.2:n.*61_*62del | |
| ENST00000568369.6:c.1074_1075del | ENSP00000456829.1:p.Tyr359ProfsTer? | |
| ENST00000696274.1:n.1035_1036del | ||
| ENST00000696275.1:c.*309_*310del | ENSP00000512517.1:n.*309_*310del | |
| ENST00000696276.1:n.1117_1118del | ||
| ENST00000696277.1:c.1074_1075del | ENSP00000512518.1:p.Tyr359ProfsTer? | |
| ENST00000696286.1:c.1074_1075del | ENSP00000512523.1:p.Tyr359ProfsTer? | |
| ENST00000696287.1:c.1074_1075del | ENSP00000512524.1:p.Tyr359ProfsTer? | |
| ENST00000696291.1:c.*418_*419del | ENSP00000512530.1:n.*418_*419del | |
| ENST00000696292.1:c.1154_1155del | ENSP00000512531.1:n.1154_1155del | |
| ENST00000389301.8:c.1074_1075del MANE Select | ENSP00000373952.3:p.Tyr359ProfsTer? | |
| ENST00000389301.7:c.1074_1075del | ENSP00000373952.3:p.Tyr359ProfsTer? | |
| ENST00000566133.1:n.246_247del | ||
| ENST00000567621.5:c.438_439del | ||
| ENST00000568369.5:c.1074_1075del | ENSP00000456829.1:p.Tyr359ProfsTer? | |
| NM_000135.2:c.1074_1075del , LRG_495t1:c.1074_1075del | NP_000126.2:p.Tyr359ProfsTer? | |
| NM_001286167.1:c.1074_1075del | NP_001273096.1:p.Tyr359ProfsTer? | |
| XM_005256294.3:c.1074_1075del | XP_005256351.1:p.Tyr359ProfsTer? | |
| XM_011522945.1:c.1074_1075del | XP_011521247.1:p.Tyr359ProfsTer? | |
| XM_011522946.1:c.51_52del | XP_011521248.1:p.Tyr18ProfsTer? | |
| XM_011522947.1:c.51_52del | XP_011521249.1:p.Tyr18ProfsTer? | |
| XM_011522948.1:c.1074_1075del | XP_011521250.1:p.Tyr359ProfsTer? | |
| XR_933244.1:n.1117_1118del | ||
| XR_933245.1:n.1117_1118del | ||
| XR_933246.1:n.1117_1118del | ||
| XR_933247.1:n.1117_1118del | ||
| NM_000135.3:c.1074_1075del | NP_000126.2:p.Tyr359ProfsTer? | |
| NM_001286167.2:c.1074_1075del | NP_001273096.1:p.Tyr359ProfsTer? | |
| XM_005256294.4:c.1074_1075del | XP_005256351.1:p.Tyr359ProfsTer? | |
| XM_011522945.2:c.1074_1075del | XP_011521247.1:p.Tyr359ProfsTer? | |
| XM_011522946.3:c.51_52del | XP_011521248.1:p.Tyr18ProfsTer? | |
| XM_011522947.2:c.51_52del | XP_011521249.1:p.Tyr18ProfsTer? | |
| XM_011522948.2:c.1074_1075del | XP_011521250.1:p.Tyr359ProfsTer? | |
| XM_017023044.2:c.1074_1075del | XP_016878533.1:p.Tyr359ProfsTer? | |
| XM_017023045.1:c.1074_1075del | XP_016878534.1:p.Tyr359ProfsTer? | |
| XM_017023046.1:c.1074_1075del | XP_016878535.1:p.Tyr359ProfsTer? | |
| XM_024450189.1:c.51_52del | XP_024305957.1:p.Tyr18ProfsTer? | |
| XR_001751866.1:n.1117_1118del | ||
| XR_001751867.1:n.1117_1118del | ||
| XR_001751868.2:n.1004_1005del | ||
| XR_002957793.1:n.1246_1247del | ||
| XR_933244.2:n.1117_1118del | ||
| XR_933245.2:n.1117_1118del | ||
| XR_933247.2:n.1117_1118del | ||
| NM_000135.4:c.1074_1075del MANE Select | NP_000126.2:p.Tyr359ProfsTer? | |
| NM_001286167.3:c.1074_1075del | NP_001273096.1:p.Tyr359ProfsTer? |