Allele Registry

Amino-acid Alleles

HGVS (amino-acid)

Transcript change

ENSP00000424104.1:p.Cys135_Ala138del

ENST00000508793.5:c.[403_414del;416_417de...

ENST00000508793.5:c.[403_414del;417G>A;41...

ENST00000508793.5:c.[403_414del;417G>A;42...

ENST00000508793.5:c.[403_414del;417G>A;43...

ENST00000508793.5:c.[403_414del;417G>A;44...

ENST00000508793.5:c.[403_414del;417G>A;45...

ENST00000508793.5:c.[403_414del;417G>A;46...

ENST00000508793.5:c.[403_414del;417G>A;47...

ENST00000508793.5:c.[403_414del;417G>A;48...

ENST00000508793.5:c.[403_414del;417G>A;49...

ENST00000508793.5:c.[403_414del;417G=;418...

ENST00000508793.5:c.[403_414del;417G=;419...

ENST00000508793.5:c.[403_414del;417G=;420...

ENST00000508793.5:c.[403_414del;417G=;421...

ENST00000508793.5:c.[403_414del;417G=;422...

ENST00000508793.5:c.[403_414del;417G=;423...

ENST00000508793.5:c.[403_414del;417G=;424...

ENST00000508793.5:c.[403_414del;417G=;425...

ENST00000508793.5:c.[403_414del;417G=;426...

ENST00000508793.5:c.[403_414del;417G=;427...

ENST00000508793.5:c.[403_414del;417G=;428...

ENST00000508793.5:c.[403_414del;417G=;429...

ENST00000508793.5:c.[403_414del;417G=;430...

ENST00000508793.5:c.[403_414del;417G=;431...

ENST00000508793.5:c.[403_414del;417G=;432...

ENST00000508793.5:c.[403_414del;417G=;433...

ENST00000508793.5:c.[403_414del;417G=;434...

ENST00000508793.5:c.[403_414del;417G=;435...

ENST00000508793.5:c.[403_414del;417G=;436...

ENST00000508793.5:c.[403_414del;417G=;437...

ENST00000508793.5:c.[403_414del;417G=;438...

ENST00000508793.5:c.[403_414del;417G=;439...

ENST00000508793.5:c.[403_414del;417G=;440...

ENST00000508793.5:c.[403_414del;417G=;441...

ENST00000508793.5:c.[403_414del;417G=;442...

ENST00000508793.5:c.[403_414del;417G=;443...

ENST00000508793.5:c.[403_414del;417G=;444...

ENST00000508793.5:c.[403_414del;417G=;445...

ENST00000508793.5:c.[403_414del;417G=;446...

ENST00000508793.5:c.[403_414del;417G=;447...

ENST00000508793.5:c.[403_414del;417G=;448...

ENST00000508793.5:c.[403_414del;417G=;450...

ENST00000508793.5:c.[403_414del;417G=;451...

ENST00000508793.5:c.[403_414del;417G=;452...

ENST00000508793.5:c.[403_414del;417G=;453...

ENST00000508793.5:c.[403_414del;417G=;454...

ENST00000508793.5:c.[403_414del;417G=;455...

ENST00000508793.5:c.[403_414del;417G=;456...

ENST00000508793.5:c.[403_414del;417G=;457...

ENST00000508793.5:c.[403_414del;417G=;458...

ENST00000508793.5:c.[403_414del;417G=;459...

ENST00000508793.5:c.[403_414del;417G=;460...

ENST00000508793.5:c.[403_414del;417G=;461...

ENST00000508793.5:c.[403_414del;417G=;462...

ENST00000508793.5:c.[403_414del;417G=;463...

ENST00000508793.5:c.[403_414del;417G=;464...

ENST00000508793.5:c.[403_414del;417G=;465...

ENST00000508793.5:c.[403_414del;417G=;466...

ENST00000508793.5:c.[403_414del;417G=;467...

ENST00000508793.5:c.[403_414del;417G=;468...

ENST00000508793.5:c.[403_414del;417G=;469...

ENST00000508793.5:c.[403_414del;417G=;470...

ENST00000508793.5:c.[403_414del;417G=;471...

ENST00000508793.5:c.[403_414del;417G=;472...

ENST00000508793.5:c.[403_414del;417G=;473...

ENST00000508793.5:c.[403_414del;417G=;474...

ENST00000508793.5:c.[403_414del;417G=;475...

ENST00000508793.5:c.[403_414del;417G=;476...

ENST00000508793.5:c.[403_414del;417G=;477...

ENST00000508793.5:c.[403_414del;417G=;478...

ENST00000508793.5:c.[403_414del;417G=;479...

ENST00000508793.5:c.[403_414del;417G=;480...

ENST00000508793.5:c.[403_414del;417G=;481...

ENST00000508793.5:c.[403_414del;417G=;482...

ENST00000508793.5:c.[403_414del;417G=;483...

ENST00000508793.5:c.[403_414del;417G=;484...

ENST00000508793.5:c.[403_414del;417G=;485...

ENST00000508793.5:c.[403_414del;417G=;486...

ENST00000508793.5:c.[403_414del;417G=;487...

ENST00000508793.5:c.[403_414del;417G=;488...

ENST00000508793.5:c.[403_414del;417G=;489...

ENST00000508793.5:c.[403_414del;417G=;490...

ENST00000508793.5:c.[403_414del;417G=;492...

ENST00000508793.5:c.[403_414del;418A=]

ENST00000508793.5:c.[403_414del;419C=]

ENST00000508793.5:c.[403_414del;419_431de...

ENST00000508793.5:c.[403_414del;420del;42...

ENST00000508793.5:c.[403_414del;420C>A]

ENST00000508793.5:c.[403_414del;420C>G]

ENST00000508793.5:c.[403_414del;420C>T]

ENST00000508793.5:c.[403_414del;421T=]

ENST00000508793.5:c.[403_414del;422G=]

ENST00000508793.5:c.[403_414del;423C=]

ENST00000508793.5:c.[403_414del;423C>T]

ENST00000508793.5:c.[403_414del;424C=]

ENST00000508793.5:c.[403_414del;425C=]

ENST00000508793.5:c.[403_414del;426T>A]

ENST00000508793.5:c.[403_414del;426T>C]

ENST00000508793.5:c.[403_414del;426T>G]

ENST00000508793.5:c.[403_414del;427G=]

ENST00000508793.5:c.[403_414del;428T=]

ENST00000508793.5:c.[403_414del;429del;43...

ENST00000508793.5:c.[403_414del;429G>A]

ENST00000508793.5:c.[403_414del;429G>C]

ENST00000508793.5:c.[403_414del;429G>T]

ENST00000508793.5:c.[403_414del;430C=]

ENST00000508793.5:c.[403_414del;431A=]

ENST00000508793.5:c.[403_414del;431_434de...

ENST00000508793.5:c.[403_414del;432G>A]

ENST00000508793.5:c.[403_414del;432G=]

ENST00000508793.5:c.[403_414del;433C=]

ENST00000508793.5:c.[403_414del;433C>T]

ENST00000508793.5:c.[403_414del;434T=]

ENST00000508793.5:c.[403_414del;435G>A]

ENST00000508793.5:c.[403_414del;435G>C]

ENST00000508793.5:c.[403_414del;435G>T]

ENST00000508793.5:c.[403_414del;436T=]

ENST00000508793.5:c.[403_414del;437G=]

ENST00000508793.5:c.[403_414del;438G=]

ENST00000508793.5:c.[403_414del;439G=]

ENST00000508793.5:c.[403_414del;439_440de...

ENST00000508793.5:c.[403_414del;440T=]

ENST00000508793.5:c.[403_414del;441T>A]

ENST00000508793.5:c.[403_414del;441T>C]

ENST00000508793.5:c.[403_414del;441T>G]

ENST00000508793.5:c.[403_414del;441T=]

ENST00000508793.5:c.[403_414del;442G=]

ENST00000508793.5:c.[403_414del;443A=]

ENST00000508793.5:c.[403_414del;444T>C]

ENST00000508793.5:c.[403_414del;445_446de...

ENST00000508793.5:c.[403_414del;446C=]

ENST00000508793.5:c.[403_414del;447C>A]

ENST00000508793.5:c.[403_414del;447C>G]

ENST00000508793.5:c.[403_414del;447C>T]

ENST00000508793.5:c.[403_414del;447_460de...

ENST00000508793.5:c.[403_414del;448_461de...

ENST00000508793.5:c.[403_414del;450del;45...

ENST00000508793.5:c.[403_414del;450A=]

ENST00000508793.5:c.[403_414del;450A>C]

ENST00000508793.5:c.[403_414del;450A>G]

ENST00000508793.5:c.[403_414del;450A>T]

ENST00000508793.5:c.[403_414del;450_452de...

ENST00000508793.5:c.[403_414del;450_453de...

ENST00000508793.5:c.[403_414del;450_460de...

ENST00000508793.5:c.[403_414del;451C=]

ENST00000508793.5:c.[403_414del;451_452de...

ENST00000508793.5:c.[403_414del;452C=]

ENST00000508793.5:c.[403_414del;453C>A]

ENST00000508793.5:c.[403_414del;453C>G]

ENST00000508793.5:c.[403_414del;453C>T]

ENST00000508793.5:c.[403_414del;453_456de...

ENST00000508793.5:c.[403_414del;454C=]

ENST00000508793.5:c.[403_414del;454_467de...

ENST00000508793.5:c.[403_414del;455C=]

ENST00000508793.5:c.[403_414del;456del;45...

ENST00000508793.5:c.[403_414del;456G>A]

ENST00000508793.5:c.[403_414del;456G>C]

ENST00000508793.5:c.[403_414del;456G=]

ENST00000508793.5:c.[403_414del;456G>T]

ENST00000508793.5:c.[403_414del;457C=]

ENST00000508793.5:c.[403_414del;458C=]

ENST00000508793.5:c.[403_414del;458_467de...

ENST00000508793.5:c.[403_414del;459C>A]

ENST00000508793.5:c.[403_414del;459C=]

ENST00000508793.5:c.[403_414del;459C>G]

ENST00000508793.5:c.[403_414del;459C>T]

ENST00000508793.5:c.[403_414del;460G=]

ENST00000508793.5:c.[403_414del;460_464de...

ENST00000508793.5:c.[403_414del;461G=]

ENST00000508793.5:c.[403_414del;462C>A]

ENST00000508793.5:c.[403_414del;462C=]

ENST00000508793.5:c.[403_414del;462C>G]

ENST00000508793.5:c.[403_414del;462C>T]

ENST00000508793.5:c.[403_414del;463A=]

ENST00000508793.5:c.[403_414del;463_469de...

ENST00000508793.5:c.[403_414del;464C=]

ENST00000508793.5:c.[403_414del;465C>A]

ENST00000508793.5:c.[403_414del;465C=]

ENST00000508793.5:c.[403_414del;465C>G]

ENST00000508793.5:c.[403_414del;465C>T]

ENST00000508793.5:c.[403_414del;466C>A;46...

ENST00000508793.5:c.[403_414del;466C=]

ENST00000508793.5:c.[403_414del;467G=]

ENST00000508793.5:c.[403_414del;468del;46...

ENST00000508793.5:c.[403_414del;468C>A]

ENST00000508793.5:c.[403_414del;468C=]

ENST00000508793.5:c.[403_414del;468C>G]

ENST00000508793.5:c.[403_414del;468C>T]

ENST00000508793.5:c.[403_414del;469G=]

ENST00000508793.5:c.[403_414del;469_477de...

ENST00000508793.5:c.[403_414del;470T=]

ENST00000508793.5:c.[403_414del;471C>A]

ENST00000508793.5:c.[403_414del;471C=]

ENST00000508793.5:c.[403_414del;471C>G]

ENST00000508793.5:c.[403_414del;471C>T]

ENST00000508793.5:c.[403_414del;471_475de...

ENST00000508793.5:c.[403_414del;472C>A;47...

ENST00000508793.5:c.[403_414del;472C=]

ENST00000508793.5:c.[403_414del;472_474de...

ENST00000508793.5:c.[403_414del;472_478de...

ENST00000508793.5:c.[403_414del;473G=]

ENST00000508793.5:c.[403_414del;473_474de...

ENST00000508793.5:c.[403_414del;474C>A]

ENST00000508793.5:c.[403_414del;474C=]

ENST00000508793.5:c.[403_414del;474C>G]

ENST00000508793.5:c.[403_414del;474C>T]

ENST00000508793.5:c.[403_414del;475G=]

ENST00000508793.5:c.[403_414del;475_476de...

ENST00000508793.5:c.[403_414del;476C=]

ENST00000508793.5:c.[403_414del;477C>A]

ENST00000508793.5:c.[403_414del;477C=]

ENST00000508793.5:c.[403_414del;477C>G]

ENST00000508793.5:c.[403_414del;477C>T]

ENST00000508793.5:c.[403_414del;477_478de...

ENST00000508793.5:c.[403_414del;478A=]

ENST00000508793.5:c.[403_414del;479T=]

ENST00000508793.5:c.[403_414del;480G=]

ENST00000508793.5:c.[403_414del;481G=]

ENST00000508793.5:c.[403_414del;482C=]

ENST00000508793.5:c.[403_414del;482_488de...

ENST00000508793.5:c.[403_414del;483C>A]

ENST00000508793.5:c.[403_414del;483C=]

ENST00000508793.5:c.[403_414del;483C>G]

ENST00000508793.5:c.[403_414del;483C>T]

ENST00000508793.5:c.[403_414del;484A=]

ENST00000508793.5:c.[403_414del;485T=]

ENST00000508793.5:c.[403_414del;486C>A]

ENST00000508793.5:c.[403_414del;486C>T]

ENST00000508793.5:c.[403_414del;486_490de...

ENST00000508793.5:c.[403_414del;487T=]

ENST00000508793.5:c.[403_414del;488A=]

ENST00000508793.5:c.[403_414del;489C=]

ENST00000508793.5:c.[403_414del;489C>T]

ENST00000508793.5:c.[403_414del;489_490de...

ENST00000508793.5:c.[403_414del;490A=]

ENST00000508793.5:c.[403_414del;492G>A]

ENST00000508793.5:c.[403_414del;492G=]