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_000017.11:g.43099774_43099808delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTG , CM000679.2:g.43099774_43099808delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTG | GRCh38 |
| NC_000017.10:g.41251791_41251825delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTG , CM000679.1:g.41251791_41251825delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTG | GRCh37 |
| NC_000017.9:g.38505317_38505351delinsCCCAATTCAATGTAGACAGACGTCTTTTGAGGTTG | NCBI36 |
| NG_005905.2:g.118176_118210delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG , LRG_292:g.118176_118210delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.578_611+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000461574.2:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000470026.6:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000473961.6:c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000476777.6:c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000477152.6:c.436_469+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000478531.6:c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000489037.2:c.436_469+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000493919.6:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000494123.6:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000497488.2:c.-218-4948_-218-4914delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ENSP00000418986.2:n.-218-4948_-218-4914delinsCAACCTCAAAAGACGT... | |
| ENST00000618469.2:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000634433.2:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000644379.2:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000644555.2:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000652672.2:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000484087.6:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000700182.1:c.433_466+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000700183.1:c.*428_*461+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000700184.1:n.754_788delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000357654.9:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000471181.7:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000642945.1:c.*388_*421+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000652672.1:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000352993.7:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000354071.7:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000357654.7:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000461221.5:c.*297_*330+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000468300.5:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000470026.5:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000471181.6:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000473961.5:c.234_267+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000476777.5:c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000477152.5:c.436_469+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000478531.5:c.511_544+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000484087.5:c.259_292+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000487825.5:c.262_295+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000491747.6:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000492859.5:c.*450_*483+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000493795.5:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000493919.5:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000494123.5:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| ENST00000497488.1:c.-218-4948_-218-4914delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ENSP00000418986.1:n.-218-4948_-218-4914delinsCAACCTCAAAAGACGT... | |
| ENST00000586385.5:c.4+25374_4+25408delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ENSP00000465818.1:n.4+25374_4+25408delinsCAACCTCAAAAGACGTCTGT... | |
| ENST00000591534.5:c.-43-25287_-43-25253delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ENSP00000467329.1:n.-43-25287_-43-25253delinsCAACCTCAAAAGACGT... | |
| ENST00000591849.5:c.-99+25463_-99+25497delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ENSP00000465347.1:n.-99+25463_-99+25497delinsCAACCTCAAAAGACGT... | |
| ENST00000634433.1:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007294.3:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG , LRG_292t1:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007297.3:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007298.3:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007299.3:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007300.3:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NR_027676.1:n.650_683+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007294.4:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007297.4:c.373_406+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007299.4:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NM_007300.4:c.514_547+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG | ||
| NR_027676.2:n.691_724+1delinsCAACCTCAAAAGACGTCTGTCTACATTGAATTGGG |