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
COSMIC:
COSM5985593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034085_28034177dup , CM000675.2:g.28034085_28034177dup | GRCh38 |
| NC_000013.10:g.28608222_28608314dup , CM000675.1:g.28608222_28608314dup | GRCh37 |
| NC_000013.9:g.27506222_27506314dup | NCBI36 |
| NG_007066.1:g.71393_71485dup , LRG_457:g.71393_71485dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.1743_1835dup MANE Select | ENSP00000241453.7:p.Glu611_Phe612insLeuThrGlySerSerAspAsnGluT... | |
| ENST00000241453.11:c.1743_1835dup | ENSP00000241453.7:p.Glu611_Phe612insLeuThrGlySerSerAspAsnGluT... | |
| ENST00000380987.2:c.1743_1835dup | ENSP00000370374.2:p.Glu611_Phe612insLeuThrGlySerSerAspAsnGluT... | |
| NM_004119.2:c.1743_1835dup , LRG_457t1:c.1743_1835dup | NP_004110.2:p.Glu611_Phe612insLeuThrGlySerSerAspAsnGluTyrPheT... | |
| NR_130706.1:n.1825_1917dup | ||
| XM_011535015.1:c.1686_1778dup | XP_011533317.1:p.Glu592_Phe593insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535016.1:c.1218_1310dup | XP_011533318.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535017.1:c.1218_1310dup | XP_011533319.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535018.1:c.1218_1310dup | XP_011533320.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535015.2:c.1686_1778dup | XP_011533317.1:p.Glu592_Phe593insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535017.2:c.1218_1310dup | XP_011533319.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_011535018.2:c.1218_1310dup | XP_011533320.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_017020486.1:c.1527_1619dup | XP_016875975.1:p.Glu539_Phe540insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_017020487.1:c.1218_1310dup | XP_016875976.1:p.Glu436_Phe437insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_017020488.1:c.864_956dup | XP_016875977.1:p.Glu318_Phe319insLeuThrGlySerSerAspAsnGluTyrP... | |
| XM_017020489.1:c.846_938dup | XP_016875978.1:p.Glu312_Phe313insLeuThrGlySerSerAspAsnGluTyrP... | |
| NM_004119.3:c.1743_1835dup MANE Select | NP_004110.2:p.Glu611_Phe612insLeuThrGlySerSerAspAsnGluTyrPheT... | |
| NR_130706.2:n.1809_1901dup |