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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511444G>T;81511449C>G;81511451A>T;81511482C>A;81511523C>G] , CM000679.2:g.[81511444G>T;81511449C>G;81511451A>T;81511482C>A;81511523C>G] | GRCh38 |
| NC_000017.10:g.[79478470G>T;79478475C>G;79478477A>T;79478508C>A;79478549C>G] , CM000679.1:g.[79478470G>T;79478475C>G;79478477A>T;79478508C>A;79478549C>G] | GRCh37 |
| NC_000017.9:g.[77093065G>T;77093070C>G;77093072A>T;77093103C>A;77093144C>G] | NCBI36 |
| NG_011433.1:g.[6279G>C;6320G>T;6351T>A;6353G>C;6358C>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000466346.2:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsH... | |
| ENST00000571691.6:c.[395G>C;436G>T;467T>A;469G>C;474C>A] | ENSP00000461407.2:p.[Gly132Ala;Ala146Ser;Leu156_Ala157delinsH... | |
| ENST00000571721.6:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000460660.2:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsG... | |
| ENST00000572105.7:c.[508G>C;549G>T;580T>A;582G>C;587C>A] | ENSP00000462823.1:p.[Glu170Gln;Thr183=;Trp194Ile;Ala196Asp] | |
| ENST00000573283.7:c.[467G>C;508G>T;539T>A;541G>C;546C>A] MANE Select | ENSP00000458435.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsG... | |
| ENST00000574671.6:n.[867G>C;908G>T;939T>A;941G>C;946C>A] | ||
| ENST00000575659.6:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000459119.2:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000575994.6:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000460464.2:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000576214.3:n.[768G>C;809G>T;840T>A;842G>C;847C>A] | ||
| ENST00000576544.6:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000461672.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000615544.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000477968.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000644774.2:c.[440G>C;481G>T;512T>A;514G>C;519C>A] | ENSP00000493648.2:p.[Gly147Ala;Ala161Ser;Leu171_Ala172delinsG... | |
| ENST00000679410.1:n.[591G>C;632G>T;663T>A;665G>C;670C>A] | ||
| ENST00000679480.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000506201.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000679535.1:n.[768G>C;809G>T;840T>A;842G>C;847C>A] | ||
| ENST00000679778.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000505235.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000680227.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000506253.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsH... | |
| ENST00000680727.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000505193.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsH... | |
| ENST00000681052.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000505060.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000681092.1:c.[*271G>C;*312G>T;*343T>A;*345G>C;*350C>A] | ENSP00000506720.1:n.[*271G>C;*312G>T;*343T>A;*345G>C;*350C>A]... | |
| ENST00000681842.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000506126.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsG... | |
| ENST00000331925.6:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000331514.2:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsG... | |
| ENST00000571691.5:c.[440G>C;481G>T;512T>A;514G>C;519C>A] | ENSP00000461407.1:p.[Gly147Ala;Ala161Ser;Leu171_Ala172delinsG... | |
| ENST00000572105.6:c.[508G>C;549G>T;580T>A;582G>C;587C>A] | ENSP00000462823.1:p.[Glu170Gln;Thr183=;Trp194Arg;Trp194Cys;Al... | |
| ENST00000573283.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000458435.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000574671.5:n.[326G>C;367G>T;398T>A;400G>C;405C>A] | ||
| ENST00000575087.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000459124.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000575659.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000459119.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000575842.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000458162.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000575994.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000460464.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000576209.5:n.[352G>C;393G>T;424T>A;426G>C;431C>A] | ||
| ENST00000576214.2:n.[665G>C;706G>T;737T>A;739G>C;744C>A] | ||
| ENST00000576544.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000461672.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| ENST00000576917.5:n.[520G>C;561G>T;592T>A;594G>C;599C>A] | ||
| ENST00000615544.4:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | ENSP00000477968.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;... | |
| NM_001199954.1:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | NP_001186883.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsHisP... | |
| NM_001614.3:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | NP_001605.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;Gly182... | |
| NR_037688.1:n.[606G>C;647G>T;678T>A;680G>C;685C>A] | ||
| NM_001199954.2:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | NP_001186883.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;Gly... | |
| NM_001614.4:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | NP_001605.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsGlnPro;... | |
| NR_037688.2:n.[539G>C;580G>T;611T>A;613G>C;618C>A] | ||
| NM_001614.5:c.[467G>C;508G>T;539T>A;541G>C;546C>A] MANE Select | NP_001605.1:p.[Gly156Ala;Ala170Ser;Leu180_Ala181delinsGlnPro;... | |
| NR_037688.3:n.[539G>C;580G>T;611T>A;613G>C;618C>A] | ||
| NM_001199954.3:c.[467G>C;508G>T;539T>A;541G>C;546C>A] | NP_001186883.1:p.[Gly156Ala;Ala170Ser;Leu180Gln;Ala181Pro;Gly... |