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_000001.11:g.11790903_11790925delinsACACACATACCCCCGCACACACG , CM000663.2:g.11790903_11790925delinsACACACATACCCCCGCACACACG | GRCh38 |
| NC_000001.10:g.11850960_11850982delinsACACACATACCCCCGCACACACG , CM000663.1:g.11850960_11850982delinsACACACATACCCCCGCACACACG | GRCh37 |
| NC_000001.9:g.11773547_11773569delinsACACACATACCCCCGCACACACG | NCBI36 |
| NG_013351.1:g.20179_20201delinsCGTGTGTGCGGGGGTATGTGTGT , LRG_726:g.20179_20201delinsCGTGTGTGCGGGGGTATGTGTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376585.6:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365770.1:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376590.9:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT MANE Select | ENSP00000365775.3:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376592.6:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365777.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000423400.7:c.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000398908.3:n.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000641407.1:c.1753-209_1753-187delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000493098.1:n.1753-209_1753-187delinsCGTGTGTGCGGGGGTATG... | |
| ENST00000641446.1:c.*212-27_*212-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000493262.1:n.*212-27_*212-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000641747.1:c.*1265-27_*1265-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000493116.1:n.*1265-27_*1265-5delinsCGTGTGTGCGGGGGTATGT... | |
| ENST00000641759.1:n.2122-27_2122-5delinsCGTGTGTGCGGGGGTATGTGTGT | ||
| ENST00000641805.1:n.2270-209_2270-187delinsCGTGTGTGCGGGGGTATGTGTGT | ||
| ENST00000641820.1:c.1018-27_1018-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000492937.1:n.1018-27_1018-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376583.7:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365767.3:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376585.5:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365770.1:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376590.7:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365775.3:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| ENST00000376592.5:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | ENSP00000365777.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGT... | |
| NM_005957.4:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT , LRG_726t1:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | NP_005948.3:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263458.2:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263515.1:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263460.3:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263517.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263461.3:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263518.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263462.3:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263519.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263463.2:c.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263520.1:n.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_011541495.1:c.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_011539797.1:n.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_011541496.1:c.1876-209_1876-187delinsCGTGTGTGCGGGGGTATGTGTGT | XP_011539798.1:n.1876-209_1876-187delinsCGTGTGTGCGGGGGTATGTGT... | |
| NM_001330358.1:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | NP_001317287.1:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263460.5:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263517.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263462.4:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263519.1:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_005263463.4:c.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_005263520.1:n.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_011541495.3:c.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_011539797.1:n.1873-27_1873-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XM_011541496.3:c.1876-209_1876-187delinsCGTGTGTGCGGGGGTATGTGTGT | XP_011539798.1:n.1876-209_1876-187delinsCGTGTGTGCGGGGGTATGTGT... | |
| XM_017001328.2:c.1876-177_1876-155delinsCGTGTGTGCGGGGGTATGTGTGT | XP_016856817.1:n.1876-177_1876-155delinsCGTGTGTGCGGGGGTATGTGT... | |
| XM_024447198.1:c.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | XP_024302966.1:n.1507-27_1507-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| XR_002956640.1:n.2854-209_2854-187delinsCGTGTGTGCGGGGGTATGTGTGT | ||
| NM_005957.5:c.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT MANE Select | NP_005948.3:n.1753-27_1753-5delinsCGTGTGTGCGGGGGTATGTGTGT | |
| NM_001330358.2:c.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT | NP_001317287.1:n.1876-27_1876-5delinsCGTGTGTGCGGGGGTATGTGTGT |