UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
14-96875943-TACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96875951_96875954del , CM000676.2:g.96875951_96875954del | GRCh38 |
| NC_000014.8:g.97342288_97342291del , CM000676.1:g.97342288_97342291del | GRCh37 |
| NC_000014.7:g.96412041_96412044del | NCBI36 |
| NG_016293.1:g.83605_83608del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216639.8:c.1069-79_1069-76del MANE Select | ENSP00000216639.3:n.1069-79_1069-76del | |
| ENST00000553683.2:c.1069-79_1069-76del | ENSP00000451412.2:n.1069-79_1069-76del | |
| ENST00000555067.2:n.11044_11047del | ||
| ENST00000679365.1:c.1063-82_1063-79del | ENSP00000505882.1:n.1063-82_1063-79del | |
| ENST00000679462.1:c.1069-44_1069-41del | ENSP00000506011.1:n.1069-44_1069-41del | |
| ENST00000679506.1:n.3131-82_3131-79del | ||
| ENST00000679533.1:c.*842-79_*842-76del | ENSP00000505873.1:n.*842-79_*842-76del | |
| ENST00000679650.1:c.*758-79_*758-76del | ENSP00000505156.1:n.*758-79_*758-76del | |
| ENST00000679727.1:c.1063-79_1063-76del | ENSP00000505844.1:n.1063-79_1063-76del | |
| ENST00000679758.1:c.1068+15216_1068+15219del | ENSP00000505539.1:n.1068+15216_1068+15219... | |
| ENST00000679770.1:c.1069-79_1069-76del | ENSP00000505214.1:n.1069-79_1069-76del | |
| ENST00000679816.1:c.1069-79_1069-76del | ENSP00000506525.1:n.1069-79_1069-76del | |
| ENST00000679843.1:c.372-79_372-76del | ENSP00000506467.1:n.372-79_372-76del | |
| ENST00000679903.1:c.1069-88_1069-85del | ENSP00000506022.1:n.1069-88_1069-85del | |
| ENST00000679918.1:c.1069-79_1069-76del | ENSP00000505439.1:n.1069-79_1069-76del | |
| ENST00000679941.1:c.1068+15216_1068+15219del | ENSP00000506520.1:n.1068+15216_1068+15219... | |
| ENST00000679977.1:c.*315-79_*315-76del | ENSP00000504897.1:n.*315-79_*315-76del | |
| ENST00000680007.1:c.1069-79_1069-76del | ENSP00000505683.1:n.1069-79_1069-76del | |
| ENST00000680335.1:c.1068+15216_1068+15219del | ENSP00000505806.1:n.1068+15216_1068+15219... | |
| ENST00000680387.1:c.1069-82_1069-79del | ENSP00000504908.1:n.1069-82_1069-79del | |
| ENST00000680526.1:c.*587+15287_*587+15290del | ENSP00000505595.1:n.*587+15287_*587+15290... | |
| ENST00000680538.1:c.979-79_979-76del | ENSP00000505611.1:n.979-79_979-76del | |
| ENST00000680683.1:c.1069-79_1069-76del | ENSP00000506334.1:n.1069-79_1069-76del | |
| ENST00000680724.1:c.1069-79_1069-76del | ENSP00000504891.1:n.1069-79_1069-76del | |
| ENST00000680756.1:c.1069-79_1069-76del | ENSP00000506648.1:n.1069-79_1069-76del | |
| ENST00000680849.1:c.1066-79_1066-76del | ENSP00000505602.1:n.1066-79_1066-76del | |
| ENST00000680851.1:c.1069-5226_1069-5223del | ENSP00000505159.1:n.1069-5226_1069-5223de... | |
| ENST00000680922.1:c.*212+15216_*212+15219del | ENSP00000506480.1:n.*212+15216_*212+15219... | |
| ENST00000680993.1:c.*432+15216_*432+15219del | ENSP00000505511.1:n.*432+15216_*432+15219... | |
| ENST00000681061.1:c.692+15216_692+15219del | ||
| ENST00000681101.1:c.1069-79_1069-76del | ENSP00000506564.1:n.1069-79_1069-76del | |
| ENST00000681195.1:c.1069-82_1069-79del | ENSP00000504933.1:n.1069-82_1069-79del | |
| ENST00000681249.1:c.1069-82_1069-79del | ENSP00000506013.1:n.1069-82_1069-79del | |
| ENST00000681344.1:c.1069-79_1069-76del | ENSP00000506151.1:n.1069-79_1069-76del | |
| ENST00000681355.1:c.1069-79_1069-76del | ENSP00000506214.1:n.1069-79_1069-76del | |
| ENST00000681363.1:c.*169-79_*169-76del | ENSP00000505564.1:n.*169-79_*169-76del | |
| ENST00000681419.1:c.1069-79_1069-76del | ENSP00000505512.1:n.1069-79_1069-76del | |
| ENST00000681474.1:c.890-79_890-76del | ENSP00000505569.1:n.890-79_890-76del | |
| ENST00000681493.1:c.1063-79_1063-76del | ENSP00000506429.1:n.1063-79_1063-76del | |
| ENST00000681524.1:c.*213-79_*213-76del | ENSP00000505783.1:n.*213-79_*213-76del | |
| ENST00000681538.1:c.*238-79_*238-76del | ENSP00000506662.1:n.*238-79_*238-76del | |
| ENST00000681598.1:c.*537+15216_*537+15219del | ENSP00000506128.1:n.*537+15216_*537+15219... | |
| ENST00000681677.1:c.693-79_693-76del | ||
| ENST00000681695.1:c.*659-79_*659-76del | ENSP00000506225.1:n.*659-79_*659-76del | |
| ENST00000681778.1:c.1068+15216_1068+15219del | ENSP00000506049.1:n.1068+15216_1068+15219... | |
| ENST00000216639.7:c.1069-79_1069-76del | ENSP00000216639.3:n.1069-79_1069-76del | |
| ENST00000555067.1:n.299-79_299-76del | ||
| ENST00000557222.5:c.637+15216_637+15219del | ||
| NM_003384.2:c.1069-79_1069-76del | NP_003375.1:n.1069-79_1069-76del | |
| XM_006720247.2:c.1069-79_1069-76del | XP_006720310.1:n.1069-79_1069-76del | |
| XM_011537132.1:c.1069-82_1069-79del | XP_011535434.1:n.1069-82_1069-79del | |
| XM_006720247.4:c.1069-79_1069-76del | XP_006720310.1:n.1069-79_1069-76del | |
| XM_017021624.2:c.1069-82_1069-79del | XP_016877113.1:n.1069-82_1069-79del | |
| XM_017021625.1:c.1075-79_1075-76del | XP_016877114.1:n.1075-79_1075-76del | |
| XR_001750539.2:n.1016-79_1016-76del | ||
| NM_003384.3:c.1069-79_1069-76del MANE Select | NP_003375.1:n.1069-79_1069-76del |