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.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT , CM000679.2:g.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT | GRCh38 |
| NC_000017.10:g.41228543_41228544insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT , CM000679.1:g.41228543_41228544insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT | GRCh37 |
| NC_000017.9:g.38482069_38482070insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT | NCBI36 |
| NG_005905.2:g.141457_141458insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT , LRG_292:g.141457_141458insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4442_4443insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000417241.2:p.Asp1481GlufsTer6 | |
| ENST00000470026.6:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000419274.2:p.Asp1482GlufsTer6 | |
| ENST00000473961.6:c.4319_4320insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000420201.2:p.Asp1440GlufsTer6 | |
| ENST00000476777.6:c.4439_4440insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000417554.2:p.Asp1480GlufsTer6 | |
| ENST00000477152.6:c.4367_4368insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000419988.2:p.Asp1456GlufsTer6 | |
| ENST00000478531.6:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000420412.2:p.Asp378GlufsTer6 | |
| ENST00000489037.2:c.4367_4368insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000420781.2:p.Asp1456GlufsTer6 | |
| ENST00000493919.6:c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418819.2:p.Asp332GlufsTer6 | |
| ENST00000494123.6:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000419103.2:p.Asp1482GlufsTer6 | |
| ENST00000497488.2:c.3557_3558insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418986.2:p.Asp1186GlufsTer6 | |
| ENST00000618469.2:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000478114.2:p.Asp1482GlufsTer6 | |
| ENST00000634433.2:c.4322_4323insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000489431.2:p.Asp1441GlufsTer6 | |
| ENST00000644379.2:c.4511_4512insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000496570.2:p.Asp1504GlufsTer6 | |
| ENST00000644555.2:c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000494614.2:p.Asp332GlufsTer6 | |
| ENST00000652672.2:c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000498906.2:p.Asp1435GlufsTer6 | |
| ENST00000484087.6:c.1007_1008insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000419481.2:p.Asp336GlufsTer6 | |
| ENST00000700182.1:c.1052_1053insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000514849.1:p.Asp351GlufsTer6 | |
| ENST00000357654.9:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT MANE Select | ENSP00000350283.3:p.Asp1482GlufsTer6 | |
| ENST00000471181.7:c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418960.2:p.Asp1503GlufsTer6 | |
| ENST00000644379.1:c.832_833insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ||
| ENST00000352993.7:c.1019_1020insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000312236.5:p.Asp340GlufsTer6 | |
| ENST00000357654.7:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000350283.3:p.Asp1482GlufsTer6 | |
| ENST00000461221.5:c.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418548.1:n.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAAC... | |
| ENST00000468300.5:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000417148.1:p.Asp378GlufsTer6 | |
| ENST00000471181.6:c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418960.2:p.Asp1503GlufsTer6 | |
| ENST00000478531.5:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000420412.1:p.Asp378GlufsTer6 | |
| ENST00000484087.5:c.758_759insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000419481.1:p.Asp253GlufsTer6 | |
| ENST00000487825.5:c.761_762insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418212.1:p.Asp254GlufsTer6 | |
| ENST00000491747.6:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000420705.2:p.Asp378GlufsTer6 | |
| ENST00000493795.5:c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418775.1:p.Asp1435GlufsTer6 | |
| ENST00000493919.5:c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000418819.1:p.Asp332GlufsTer6 | |
| ENST00000586385.5:c.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000465818.1:n.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGT... | |
| ENST00000591534.5:c.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000467329.1:n.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTT... | |
| ENST00000591849.5:c.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ENSP00000465347.1:n.-98-26337_-98-26336insAGCCAATCAAGATTAATCT... | |
| ENST00000621897.1:n.336_337insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ||
| NM_007294.3:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT , LRG_292t1:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009225.1:p.Asp1482GlufsTer6 | |
| NM_007297.3:c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009228.2:p.Asp1435GlufsTer6 | |
| NM_007298.3:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009229.2:p.Asp378GlufsTer6 | |
| NM_007299.3:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009230.2:p.Asp378GlufsTer6 | |
| NM_007300.3:c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009231.2:p.Asp1503GlufsTer6 | |
| NR_027676.1:n.4581_4582insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | ||
| NM_007294.4:c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT MANE Select | NP_009225.1:p.Asp1482GlufsTer6 | |
| NM_007297.4:c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009228.2:p.Asp1435GlufsTer6 | |
| NM_007299.4:c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009230.2:p.Asp378GlufsTer6 | |
| NM_007300.4:c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | NP_009231.2:p.Asp1503GlufsTer6 | |
| NR_027676.2:n.4622_4623insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT |