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.
Linked Data
dbSNP Id:
rs35574083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039888_55039902dup , CM000663.2:g.55039888_55039902dup | GRCh38 |
| NC_000001.10:g.55505561_55505575dup , CM000663.1:g.55505561_55505575dup | GRCh37 |
| NC_000001.9:g.55278149_55278163dup | NCBI36 |
| NG_009061.1:g.5342_5356dup , LRG_275:g.5342_5356dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.51_65dup | ENSP00000501161.2:p.Leu22_Leu23insLeuLeuL... | |
| ENST00000710286.1:c.408_422dup | ENSP00000518176.1:p.Leu141_Leu142insLeuLe... | |
| ENST00000673726.1:c.51_65dup | ENSP00000501004.1:p.Leu22_Leu23insLeuLeuL... | |
| ENST00000302118.5:c.51_65dup MANE Select | ENSP00000303208.5:p.Leu22_Leu23insLeuLeuL... | |
| NM_174936.3:c.51_65dup , LRG_275t1:c.51_65dup | NP_777596.2:p.Leu22_Leu23insLeuLeuLeuLeuL... | |
| NM_174936.4:c.51_65dup MANE Select | NP_777596.2:p.Leu22_Leu23insLeuLeuLeuLeuL... |