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.64805655_64805668del , CM000673.2:g.64805655_64805668del | GRCh38 |
| NC_000011.9:g.64573127_64573140del , CM000673.1:g.64573127_64573140del | GRCh37 |
| NC_000011.8:g.64329703_64329716del | NCBI36 |
| NG_008929.1:g.10630_10643del , LRG_509:g.10630_10643del | |
| NG_033040.1:g.2577_2590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.1170_1183del | ENSP00000366530.1:p.Glu392GlyfsTer17 | |
| ENST00000394374.8:c.*463_*476del | ENSP00000377899.4:n.*463_*476del | |
| ENST00000394376.7:c.1155_1168del | ENSP00000377901.3:p.Glu387GlyfsTer17 | |
| ENST00000413626.2:c.1155_1168del | ENSP00000411218.2:p.Glu387GlyfsTer17 | |
| ENST00000424912.2:c.1155_1168del | ENSP00000388016.2:p.Glu387GlyfsTer17 | |
| ENST00000429702.6:c.1155_1168del | ENSP00000402752.2:p.Glu387GlyfsTer17 | |
| ENST00000672079.2:c.*251_*264del | ENSP00000500905.2:n.*251_*264del | |
| ENST00000710881.1:c.1170_1183del | ENSP00000518530.1:p.Glu392GlyfsTer17 | |
| ENST00000394374.7:c.902_915del | ||
| ENST00000394376.6:c.506_519del | ||
| ENST00000478548.3:n.1648_1661del | ||
| ENST00000671939.2:n.1117_1130del | ||
| ENST00000671965.2:n.1537_1550del | ||
| ENST00000312049.11:c.1155_1168del | ENSP00000308975.6:p.Glu387GlyfsTer17 | |
| ENST00000315422.9:c.1155_1168del | ENSP00000323747.4:p.Glu387GlyfsTer17 | |
| ENST00000377313.6:c.1170_1183del | ENSP00000366530.1:p.Glu392GlyfsTer17 | |
| ENST00000440873.6:c.1155_1168del | ENSP00000413944.2:p.Glu387GlyfsTer17 | |
| ENST00000450708.7:c.1155_1168del MANE Select | ENSP00000394933.3:p.Glu387GlyfsTer17 | |
| ENST00000478548.2:n.1656_1669del | ||
| ENST00000671939.1:n.1432_1445del | ||
| ENST00000672079.1:c.1030_1043del | ||
| ENST00000672304.1:c.1281_1294del | ENSP00000500585.1:p.Glu429GlyfsTer17 | |
| ENST00000312049.10:c.1155_1168del | ENSP00000308975.6:p.Glu387GlyfsTer17 | |
| ENST00000315422.8:c.1155_1168del | ENSP00000323747.4:p.Glu387GlyfsTer17 | |
| ENST00000337652.5:c.1170_1183del | ENSP00000337088.1:p.Glu392GlyfsTer17 | |
| ENST00000377313.5:c.1170_1183del | ENSP00000366530.1:p.Glu392GlyfsTer17 | |
| ENST00000377316.6:c.1155_1168del | ENSP00000366533.1:p.Glu387GlyfsTer? | |
| ENST00000377321.5:c.1050_1063del | ENSP00000366538.1:p.Glu352GlyfsTer17 | |
| ENST00000377326.7:c.1155_1168del | ENSP00000366543.3:p.Glu387GlyfsTer17 | |
| ENST00000394374.6:c.1170_1183del | ENSP00000377899.2:p.Glu392GlyfsTer17 | |
| ENST00000394376.5:c.1170_1183del | ENSP00000377901.1:p.Glu392GlyfsTer17 | |
| ENST00000478548.1:n.704_717del | ||
| ENST00000487019.1:n.211_224del | ||
| NM_000244.3:c.1170_1183del , LRG_509t1:c.1170_1183del | NP_000235.2:p.Glu392GlyfsTer17 | |
| NM_130799.2:c.1155_1168del , LRG_509t2:c.1155_1168del | NP_570711.1:p.Glu387GlyfsTer17 | |
| NM_130800.2:c.1170_1183del | NP_570712.1:p.Glu392GlyfsTer17 | |
| NM_130801.2:c.1170_1183del | NP_570713.1:p.Glu392GlyfsTer17 | |
| NM_130802.2:c.1170_1183del | NP_570714.1:p.Glu392GlyfsTer17 | |
| NM_130803.2:c.1170_1183del | NP_570715.1:p.Glu392GlyfsTer17 | |
| NM_130804.2:c.1170_1183del | NP_570716.1:p.Glu392GlyfsTer17 | |
| XM_005274001.3:c.1155_1168del | XP_005274058.1:p.Glu387GlyfsTer17 | |
| XM_011545040.1:c.1281_1294del | XP_011543342.1:p.Glu429GlyfsTer17 | |
| XM_011545041.1:c.1281_1294del | XP_011543343.1:p.Glu429GlyfsTer17 | |
| XM_011545042.1:c.1281_1294del | XP_011543344.1:p.Glu429GlyfsTer17 | |
| XM_005274001.4:c.1155_1168del | XP_005274058.1:p.Glu387GlyfsTer17 | |
| XM_011545041.2:c.1281_1294del | XP_011543343.1:p.Glu429GlyfsTer17 | |
| XM_011545042.3:c.1281_1294del | XP_011543344.1:p.Glu429GlyfsTer17 | |
| XM_017017765.1:c.1296_1309del | XP_016873254.1:p.Glu434GlyfsTer17 | |
| XM_017017766.1:c.1296_1309del | XP_016873255.1:p.Glu434GlyfsTer17 | |
| XM_017017767.2:c.1296_1309del | XP_016873256.1:p.Glu434GlyfsTer17 | |
| XM_017017768.1:c.1296_1309del | XP_016873257.1:p.Glu434GlyfsTer17 | |
| XM_017017769.1:c.1155_1168del | XP_016873258.1:p.Glu387GlyfsTer17 | |
| XM_017017770.2:c.1155_1168del | XP_016873259.1:p.Glu387GlyfsTer17 | |
| NM_001370251.1:c.1281_1294del | NP_001357180.1:p.Glu429GlyfsTer17 | |
| NM_001370259.2:c.1155_1168del MANE Select | NP_001357188.2:p.Glu387GlyfsTer17 | |
| NM_001370260.1:c.1155_1168del | NP_001357189.1:p.Glu387GlyfsTer17 | |
| NM_001370261.1:c.1155_1168del | NP_001357190.1:p.Glu387GlyfsTer17 | |
| NM_001370262.1:c.1050_1063del | NP_001357191.1:p.Glu352GlyfsTer17 | |
| NM_001370263.1:c.1050_1063del | NP_001357192.1:p.Glu352GlyfsTer17 | |
| NM_000244.4:c.1170_1183del | NP_000235.3:p.Glu392GlyfsTer17 | |
| NM_001370251.2:c.1281_1294del | NP_001357180.2:p.Glu429GlyfsTer17 | |
| NM_001370260.2:c.1155_1168del | NP_001357189.2:p.Glu387GlyfsTer17 | |
| NM_001370261.2:c.1155_1168del | NP_001357190.2:p.Glu387GlyfsTer17 | |
| NM_001370262.2:c.1050_1063del | NP_001357191.2:p.Glu352GlyfsTer17 | |
| NM_001370263.2:c.1050_1063del | NP_001357192.2:p.Glu352GlyfsTer17 | |
| NM_130799.3:c.1155_1168del | NP_570711.2:p.Glu387GlyfsTer17 | |
| NM_130800.3:c.1170_1183del | NP_570712.2:p.Glu392GlyfsTer17 | |
| NM_130801.3:c.1170_1183del | NP_570713.2:p.Glu392GlyfsTer17 | |
| NM_130802.3:c.1170_1183del | NP_570714.2:p.Glu392GlyfsTer17 | |
| NM_130803.3:c.1170_1183del | NP_570715.2:p.Glu392GlyfsTer17 | |
| NM_130804.3:c.1170_1183del | NP_570716.2:p.Glu392GlyfsTer17 |