Linked Data
dbSNP Id:
rs1315453757
gnomAD v2:
17-19568021-CTTTTG-C
gnomAD v3:
17-19664708-CTTTTG-C
gnomAD v4:
17-19664708-CTTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19664710_19664714del , CM000679.2:g.19664710_19664714del | GRCh38 |
| NC_000017.10:g.19568023_19568027del , CM000679.1:g.19568023_19568027del | GRCh37 |
| NC_000017.9:g.19508615_19508619del | NCBI36 |
| NG_007095.2:g.20960_20964del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1108-238_1108-234del MANE Select | ENSP00000176643.6:n.1108-238_1108-234del | |
| ENST00000395575.7:c.781-238_781-234del | ENSP00000378942.3:n.781-238_781-234del | |
| ENST00000472059.6:c.*666-238_*666-234del | ENSP00000458397.1:n.*666-238_*666-234del | |
| ENST00000571163.2:c.127-238_127-234del | ENSP00000459977.2:n.127-238_127-234del | |
| ENST00000574078.3:n.437-238_437-234del | ||
| ENST00000581518.6:c.1108-238_1108-234del | ENSP00000461916.2:n.1108-238_1108-234del | |
| ENST00000582991.6:c.1107+1211_1107+1215del | ENSP00000464153.1:n.1107+1211_1107+1215del | |
| ENST00000671878.1:c.1108-238_1108-234del | ENSP00000500516.1:n.1108-238_1108-234del | |
| ENST00000672059.1:n.1558+1211_1558+1215del | ||
| ENST00000672357.1:c.1108-238_1108-234del | ENSP00000500092.1:n.1108-238_1108-234del | |
| ENST00000672465.1:c.1108-238_1108-234del | ENSP00000500517.1:n.1108-238_1108-234del | |
| ENST00000672487.1:c.*288-238_*288-234del | ENSP00000500740.1:n.*288-238_*288-234del | |
| ENST00000672564.1:n.2539_2543del | ||
| ENST00000672567.1:c.999-238_999-234del | ||
| ENST00000672591.1:c.168-238_168-234del | ||
| ENST00000672608.1:n.2097-238_2097-234del | ||
| ENST00000672709.1:c.962-238_962-234del | ||
| ENST00000673064.1:n.1608-238_1608-234del | ||
| ENST00000673136.1:c.1108-238_1108-234del | ENSP00000500380.1:n.1108-238_1108-234del | |
| ENST00000673472.1:n.1444-238_1444-234del | ||
| ENST00000673516.1:n.1568-238_1568-234del | ||
| ENST00000176643.10:c.1108-238_1108-234del | ENSP00000176643.6:n.1108-238_1108-234del | |
| ENST00000339618.8:c.1108-238_1108-234del | ENSP00000345774.4:n.1108-238_1108-234del | |
| ENST00000395575.6:c.1108-238_1108-234del | ENSP00000378942.2:n.1108-238_1108-234del | |
| ENST00000472059.5:c.*666-238_*666-234del | ENSP00000458397.1:n.*666-238_*666-234del | |
| ENST00000476965.5:n.858-238_858-234del | ||
| ENST00000571163.1:c.127-238_127-234del | ENSP00000459977.1:n.127-238_127-234del | |
| ENST00000573947.1:c.114+1211_114+1215del | ENSP00000462933.1:n.114+1211_114+1215del | |
| ENST00000579855.5:c.1108-238_1108-234del | ENSP00000463637.1:n.1108-238_1108-234del | |
| ENST00000581518.5:c.1108-238_1108-234del | ENSP00000461916.1:n.1108-238_1108-234del | |
| ENST00000582991.5:c.1107+1211_1107+1215del | ENSP00000464153.1:n.1107+1211_1107+1215del | |
| ENST00000630662.2:c.127-238_127-234del | ENSP00000487353.1:n.127-238_127-234del | |
| ENST00000631291.2:c.1107+1211_1107+1215del | ENSP00000486085.1:n.1107+1211_1107+1215del | |
| NM_000382.2:c.1108-238_1108-234del | NP_000373.1:n.1108-238_1108-234del | |
| NM_001031806.1:c.1108-238_1108-234del | NP_001026976.1:n.1108-238_1108-234del | |
| XM_011523732.1:c.1108-238_1108-234del | XP_011522034.1:n.1108-238_1108-234del | |
| XM_011523733.1:c.1108-238_1108-234del | XP_011522035.1:n.1108-238_1108-234del | |
| XM_011523733.2:c.1108-238_1108-234del | XP_011522035.1:n.1108-238_1108-234del | |
| XM_017024355.1:c.1108-238_1108-234del | XP_016879844.1:n.1108-238_1108-234del | |
| XM_017024356.2:c.1108-238_1108-234del | XP_016879845.1:n.1108-238_1108-234del | |
| XM_017024357.1:c.1108-238_1108-234del | XP_016879846.1:n.1108-238_1108-234del | |
| XM_017024358.2:c.1108-238_1108-234del | XP_016879847.1:n.1108-238_1108-234del | |
| XM_024450651.1:c.529-238_529-234del | XP_024306419.1:n.529-238_529-234del | |
| XM_024450652.1:c.529-238_529-234del | XP_024306420.1:n.529-238_529-234del | |
| NM_000382.3:c.1108-238_1108-234del MANE Select | NP_000373.1:n.1108-238_1108-234del | |
| NM_001031806.2:c.1108-238_1108-234del | NP_001026976.1:n.1108-238_1108-234del | |
| NM_001369136.1:c.1108-238_1108-234del | NP_001356065.1:n.1108-238_1108-234del | |
| NM_001369137.1:c.1108-238_1108-234del | NP_001356066.1:n.1108-238_1108-234del | |
| NM_001369138.1:c.1108-238_1108-234del | NP_001356067.1:n.1108-238_1108-234del | |
| NM_001369139.1:c.1108-238_1108-234del | NP_001356068.1:n.1108-238_1108-234del | |
| NM_001369146.1:c.1108-238_1108-234del | NP_001356075.1:n.1108-238_1108-234del | |
| NM_001369148.1:c.529-238_529-234del | NP_001356077.1:n.529-238_529-234del | |
| NM_001369137.2:c.1108-238_1108-234del | NP_001356066.1:n.1108-238_1108-234del | |
| NM_001369138.2:c.1108-238_1108-234del | NP_001356067.1:n.1108-238_1108-234del | |
| NM_001369146.2:c.1108-238_1108-234del | NP_001356075.1:n.1108-238_1108-234del | |
| NM_001369148.2:c.529-238_529-234del | NP_001356077.1:n.529-238_529-234del |