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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33341592_33341593delinsGA , CM000683.2:g.33341592_33341593delinsGA | GRCh38 |
| NC_000021.8:g.34713898_34713899delinsGA , CM000683.1:g.34713898_34713899delinsGA | GRCh37 |
| NC_000021.7:g.33635768_33635769delinsGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442071.3:c.376+418_376+419delinsGA | ENSP00000400161.3:n.376+418_376+419delins... | |
| ENST00000651609.2:c.*93+418_*93+419delinsGA | ENSP00000498594.1:n.*93+418_*93+419delins... | |
| ENST00000652450.2:c.169+418_169+419delinsGA | ENSP00000498654.1:n.169+418_169+419delins... | |
| ENST00000652513.2:c.376+418_376+419delinsGA | ENSP00000498491.1:n.376+418_376+419delins... | |
| ENST00000652654.3:c.376+418_376+419delinsGA | ENSP00000498666.1:n.376+418_376+419delins... | |
| ENST00000700045.1:n.503+418_503+419delinsGA | ||
| ENST00000700046.1:c.201-1676_201-1675delinsGA | ENSP00000514762.1:n.201-1676_201-1675deli... | |
| ENST00000700080.1:c.169+418_169+419delinsGA | ENSP00000514785.1:n.169+418_169+419delins... | |
| ENST00000700084.1:c.-89-3654_-89-3653delinsGA | ENSP00000514786.1:n.-89-3654_-89-3653deli... | |
| ENST00000700087.1:n.497+418_497+419delinsGA | ||
| ENST00000700099.1:n.875_876delinsGA | ||
| ENST00000700301.1:n.497+418_497+419delinsGA | ||
| ENST00000703514.1:c.376+418_376+419delinsGA | ENSP00000515347.1:n.376+418_376+419delins... | |
| ENST00000703515.1:c.376+418_376+419delinsGA | ENSP00000515348.1:n.376+418_376+419delins... | |
| ENST00000703516.1:c.201-3654_201-3653delinsGA | ENSP00000515349.1:n.201-3654_201-3653deli... | |
| ENST00000703556.1:c.376+418_376+419delinsGA | ENSP00000515372.1:n.376+418_376+419delins... | |
| ENST00000703557.1:c.376+418_376+419delinsGA | ENSP00000515373.1:n.376+418_376+419delins... | |
| ENST00000703561.1:c.376+418_376+419delinsGA | ENSP00000515377.1:n.376+418_376+419delins... | |
| ENST00000703562.1:c.376+418_376+419delinsGA | ENSP00000515378.1:n.376+418_376+419delins... | |
| ENST00000703563.1:c.376+418_376+419delinsGA | ENSP00000515379.1:n.376+418_376+419delins... | |
| ENST00000703564.1:c.*93+418_*93+419delinsGA | ENSP00000515380.1:n.*93+418_*93+419delins... | |
| ENST00000703565.1:c.376+418_376+419delinsGA | ENSP00000515381.1:n.376+418_376+419delins... | |
| ENST00000703778.1:n.422+418_422+419delinsGA | ||
| ENST00000703779.1:c.201-1676_201-1675delinsGA | ENSP00000515477.1:n.201-1676_201-1675deli... | |
| ENST00000270139.8:c.376+418_376+419delinsGA MANE Select | ENSP00000270139.3:n.376+418_376+419delins... | |
| ENST00000442071.2:c.376+418_376+419delinsGA | ENSP00000400161.2:n.376+418_376+419delins... | |
| ENST00000651609.1:c.*93+418_*93+419delinsGA | ENSP00000498594.1:n.*93+418_*93+419delins... | |
| ENST00000652450.1:c.169+418_169+419delinsGA | ENSP00000498654.1:n.169+418_169+419delins... | |
| ENST00000652513.1:c.376+418_376+419delinsGA | ENSP00000498491.1:n.376+418_376+419delins... | |
| ENST00000652601.1:c.376+418_376+419delinsGA | ENSP00000498231.1:n.376+418_376+419delins... | |
| ENST00000652654.1:c.376+418_376+419delinsGA | ENSP00000498666.1:n.376+418_376+419delins... | |
| ENST00000270139.7:c.376+418_376+419delinsGA | ENSP00000270139.3:n.376+418_376+419delins... | |
| ENST00000442071.1:c.376+418_376+419delinsGA | ENSP00000400161.1:n.376+418_376+419delins... | |
| NM_000629.2:c.376+418_376+419delinsGA | NP_000620.2:n.376+418_376+419delinsGA | |
| XM_005260964.1:c.169+418_169+419delinsGA | XP_005261021.1:n.169+418_169+419delinsGA | |
| XM_011529552.1:c.376+418_376+419delinsGA | XP_011527854.1:n.376+418_376+419delinsGA | |
| XM_005260964.2:c.169+418_169+419delinsGA | XP_005261021.1:n.169+418_169+419delinsGA | |
| XM_011529552.2:c.376+418_376+419delinsGA | XP_011527854.1:n.376+418_376+419delinsGA | |
| NM_000629.3:c.376+418_376+419delinsGA MANE Select | NP_000620.2:n.376+418_376+419delinsGA | |
| NM_001384498.1:c.376+418_376+419delinsGA | NP_001371427.1:n.376+418_376+419delinsGA | |
| NM_001384499.1:c.376+418_376+419delinsGA | NP_001371428.1:n.376+418_376+419delinsGA | |
| NM_001384500.1:c.-411+418_-411+419delinsGA | NP_001371429.1:n.-411+418_-411+419delinsG... | |
| NM_001384501.1:c.376+418_376+419delinsGA | NP_001371430.1:n.376+418_376+419delinsGA | |
| NM_001384502.1:c.-87+418_-87+419delinsGA | NP_001371431.1:n.-87+418_-87+419delinsGA | |
| NM_001384503.1:c.376+418_376+419delinsGA | NP_001371432.1:n.376+418_376+419delinsGA | |
| NM_001384504.1:c.169+418_169+419delinsGA | NP_001371433.1:n.169+418_169+419delinsGA |