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_000011.10:g.47268499_47268510delinsCGCTTCCCTGGG , CM000673.2:g.47268499_47268510delinsCGCTTCCCTGGG | GRCh38 |
| NC_000011.9:g.47290050_47290061delinsCGCTTCCCTGGG , CM000673.1:g.47290050_47290061delinsCGCTTCCCTGGG | GRCh37 |
| NC_000011.8:g.47246626_47246637delinsCGCTTCCCTGGG | NCBI36 |
| NG_029462.1:g.4124_4135delinsCGCTTCCCTGGG | |
| NG_030392.1:g.25200_25211delinsCGCTTCCCTGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441012.7:c.1198-51_1198-40delinsCGCTTCCCTGGG MANE Select | ENSP00000387946.2:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| ENST00000395397.7:c.1063-51_1063-40delinsCGCTTCCCTGGG | ENSP00000378793.3:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| ENST00000405576.5:c.883-51_883-40delinsCGCTTCCCTGGG | ENSP00000385073.1:n.883-51_883-40delinsCGCTTCCCTGGG | |
| ENST00000405853.7:c.1018-51_1018-40delinsCGCTTCCCTGGG | ENSP00000384745.3:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| ENST00000407404.5:c.1018-51_1018-40delinsCGCTTCCCTGGG | ENSP00000385801.1:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| ENST00000441012.6:c.1198-51_1198-40delinsCGCTTCCCTGGG | ENSP00000387946.2:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| ENST00000462051.5:n.412-51_412-40delinsCGCTTCCCTGGG | ||
| ENST00000467728.5:c.1198-51_1198-40delinsCGCTTCCCTGGG | ENSP00000420656.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| ENST00000481020.5:n.1423-51_1423-40delinsCGCTTCCCTGGG | ||
| ENST00000481889.6:c.1255-51_1255-40delinsCGCTTCCCTGGG | ENSP00000433271.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| ENST00000494018.1:n.216-51_216-40delinsCGCTTCCCTGGG | ||
| ENST00000527949.1:c.745-51_745-40delinsCGCTTCCCTGGG | ENSP00000432073.1:n.745-51_745-40delinsCGCTTCCCTGGG | |
| ENST00000529540.5:n.1385-51_1385-40delinsCGCTTCCCTGGG | ||
| ENST00000532630.1:n.283-51_283-40delinsCGCTTCCCTGGG | ||
| ENST00000616973.4:c.1216-51_1216-40delinsCGCTTCCCTGGG | ENSP00000477707.1:n.1216-51_1216-40delinsCGCTTCCCTGGG | |
| NM_001130101.2:c.1018-51_1018-40delinsCGCTTCCCTGGG | NP_001123573.1:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| NM_001130102.2:c.1063-51_1063-40delinsCGCTTCCCTGGG | NP_001123574.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| NM_001251934.1:c.1216-51_1216-40delinsCGCTTCCCTGGG | NP_001238863.1:n.1216-51_1216-40delinsCGCTTCCCTGGG | |
| NM_001251935.1:c.1216-51_1216-40delinsCGCTTCCCTGGG | NP_001238864.1:n.1216-51_1216-40delinsCGCTTCCCTGGG | |
| NM_005693.3:c.1198-51_1198-40delinsCGCTTCCCTGGG | NP_005684.2:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_005252705.1:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_005252762.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_005252706.1:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_005252763.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_005252707.3:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_005252764.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_005252709.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_005252766.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_005252710.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_005252767.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_005252713.2:c.1018-51_1018-40delinsCGCTTCCCTGGG | XP_005252770.1:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| XM_005252715.2:c.931-51_931-40delinsCGCTTCCCTGGG | XP_005252772.1:n.931-51_931-40delinsCGCTTCCCTGGG | |
| XM_005252716.2:c.796-51_796-40delinsCGCTTCCCTGGG | XP_005252773.1:n.796-51_796-40delinsCGCTTCCCTGGG | |
| XM_005252718.2:c.616-51_616-40delinsCGCTTCCCTGGG | XP_005252775.1:n.616-51_616-40delinsCGCTTCCCTGGG | |
| XM_006718112.1:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_006718175.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_006718113.1:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_006718176.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_006718114.2:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_006718177.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_006718115.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_006718178.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_006718116.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_006718179.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_011519805.1:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_011518107.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_011519806.1:c.883-51_883-40delinsCGCTTCCCTGGG | XP_011518108.1:n.883-51_883-40delinsCGCTTCCCTGGG | |
| XM_011519807.1:c.796-51_796-40delinsCGCTTCCCTGGG | XP_011518109.1:n.796-51_796-40delinsCGCTTCCCTGGG | |
| XM_011519808.1:c.562-51_562-40delinsCGCTTCCCTGGG | XP_011518110.1:n.562-51_562-40delinsCGCTTCCCTGGG | |
| NM_001363595.1:c.883-51_883-40delinsCGCTTCCCTGGG | NP_001350524.1:n.883-51_883-40delinsCGCTTCCCTGGG | |
| XM_005252713.3:c.1018-51_1018-40delinsCGCTTCCCTGGG | XP_005252770.1:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| XM_005252718.3:c.616-51_616-40delinsCGCTTCCCTGGG | XP_005252775.1:n.616-51_616-40delinsCGCTTCCCTGGG | |
| XM_011519805.2:c.1198-51_1198-40delinsCGCTTCCCTGGG | XP_011518107.1:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| XM_011519808.2:c.562-51_562-40delinsCGCTTCCCTGGG | XP_011518110.1:n.562-51_562-40delinsCGCTTCCCTGGG | |
| XM_024448284.1:c.1390-51_1390-40delinsCGCTTCCCTGGG | XP_024304052.1:n.1390-51_1390-40delinsCGCTTCCCTGGG | |
| XM_024448285.1:c.1390-51_1390-40delinsCGCTTCCCTGGG | XP_024304053.1:n.1390-51_1390-40delinsCGCTTCCCTGGG | |
| XM_024448286.1:c.1390-51_1390-40delinsCGCTTCCCTGGG | XP_024304054.1:n.1390-51_1390-40delinsCGCTTCCCTGGG | |
| XM_024448287.1:c.1390-51_1390-40delinsCGCTTCCCTGGG | XP_024304055.1:n.1390-51_1390-40delinsCGCTTCCCTGGG | |
| XM_024448288.1:c.1390-51_1390-40delinsCGCTTCCCTGGG | XP_024304056.1:n.1390-51_1390-40delinsCGCTTCCCTGGG | |
| XM_024448289.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_024304057.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_024448290.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304058.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448291.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304059.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448292.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304060.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448293.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304061.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448294.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304062.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448295.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304063.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448296.1:c.988-51_988-40delinsCGCTTCCCTGGG | XP_024304064.1:n.988-51_988-40delinsCGCTTCCCTGGG | |
| XM_024448297.1:c.1123-51_1123-40delinsCGCTTCCCTGGG | XP_024304065.1:n.1123-51_1123-40delinsCGCTTCCCTGGG | |
| XM_024448298.1:c.1063-51_1063-40delinsCGCTTCCCTGGG | XP_024304066.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| XM_024448299.1:c.988-51_988-40delinsCGCTTCCCTGGG | XP_024304067.1:n.988-51_988-40delinsCGCTTCCCTGGG | |
| XM_024448300.1:c.1255-51_1255-40delinsCGCTTCCCTGGG | XP_024304068.1:n.1255-51_1255-40delinsCGCTTCCCTGGG | |
| XM_024448302.1:c.754-51_754-40delinsCGCTTCCCTGGG | XP_024304070.1:n.754-51_754-40delinsCGCTTCCCTGGG | |
| NM_005693.4:c.1198-51_1198-40delinsCGCTTCCCTGGG MANE Select | NP_005684.2:n.1198-51_1198-40delinsCGCTTCCCTGGG | |
| NM_001130101.3:c.1018-51_1018-40delinsCGCTTCCCTGGG | NP_001123573.1:n.1018-51_1018-40delinsCGCTTCCCTGGG | |
| NM_001130102.3:c.1063-51_1063-40delinsCGCTTCCCTGGG | NP_001123574.1:n.1063-51_1063-40delinsCGCTTCCCTGGG | |
| NM_001363595.2:c.883-51_883-40delinsCGCTTCCCTGGG | NP_001350524.1:n.883-51_883-40delinsCGCTTCCCTGGG | |
| NM_001251934.2:c.1216-51_1216-40delinsCGCTTCCCTGGG | NP_001238863.1:n.1216-51_1216-40delinsCGCTTCCCTGGG | |
| NM_001251935.2:c.1216-51_1216-40delinsCGCTTCCCTGGG | NP_001238864.1:n.1216-51_1216-40delinsCGCTTCCCTGGG |