Canonical Allele Identifier: CA2825000973
Community Standard Title: NM_001048174.2(MUTYH):c.168_171delinsG (p.Tyr56Ter)
Gene: MUTYH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45333506_45333509delinsC , CM000663.2:g.45333506_45333509delinsC GRCh38
NC_000001.10:g.45799178_45799181delinsC , CM000663.1:g.45799178_45799181delinsC GRCh37
NC_000001.9:g.45571765_45571768delinsC NCBI36
NG_008189.1:g.11962_11965delinsG , LRG_220:g.11962_11965delinsG

Transcript Alleles

HGVS Amino-acid Change
NM_001048174.2:c.168_171delinsG MANE Select NP_001041639.1:p.Tyr56Ter
ENST00000456914.7:c.168_171delinsG MANE Select ENSP00000407590.2:p.Tyr56Ter
NM_001128425.2:c.252_255delinsG MANE Plus Clinical NP_001121897.1:p.Tyr84Ter
ENST00000710952.2:c.252_255delinsG MANE Plus Clinical ENSP00000518552.2:p.Tyr84Ter
NM_001048171.1:c.210_213delinsG NP_001041636.1:p.Tyr70Ter
NM_001048171.2:c.168_171delinsG NP_001041636.2:p.Tyr56Ter
NM_001048172.1:c.171_174delinsG NP_001041637.1:p.Tyr57Ter
NM_001048172.2:c.171_174delinsG NP_001041637.1:p.Tyr57Ter
NM_001048173.1:c.168_171delinsG NP_001041638.1:p.Tyr56Ter
NM_001048173.2:c.168_171delinsG NP_001041638.1:p.Tyr56Ter
NM_001048174.1:c.168_171delinsG NP_001041639.1:p.Tyr56Ter
NM_001128425.1:c.252_255delinsG , LRG_220t1:c.252_255delinsG NP_001121897.1:p.Tyr84Ter
NM_001293190.1:c.213_216delinsG NP_001280119.1:p.Tyr71Ter
NM_001293190.2:c.213_216delinsG NP_001280119.1:p.Tyr71Ter
NM_001293191.1:c.201_204delinsG NP_001280120.1:p.Tyr67Ter
NM_001293191.2:c.201_204delinsG NP_001280120.1:p.Tyr67Ter
NM_001293192.1:c.-97-12_-97-9delinsG NP_001280121.1:n.-97-12_-97-9delinsG
NM_001293192.2:c.-97-12_-97-9delinsG NP_001280121.1:n.-97-12_-97-9delinsG
NM_001293195.1:c.168_171delinsG NP_001280124.1:p.Tyr56Ter
NM_001293195.2:c.168_171delinsG NP_001280124.1:p.Tyr56Ter
NM_001293196.1:c.-97-12_-97-9delinsG NP_001280125.1:n.-97-12_-97-9delinsG
NM_001293196.2:c.-97-12_-97-9delinsG NP_001280125.1:n.-97-12_-97-9delinsG
NM_001350650.1:c.-104_-101delinsG NP_001337579.1:n.-104_-101delinsG
NM_001350650.2:c.-104_-101delinsG NP_001337579.1:n.-104_-101delinsG
NM_001350651.1:c.-92-12_-92-9delinsG NP_001337580.1:n.-92-12_-92-9delinsG
NM_001350651.2:c.-92-12_-92-9delinsG NP_001337580.1:n.-92-12_-92-9delinsG
NM_012222.2:c.243_246delinsG NP_036354.1:p.Tyr81Ter
NM_012222.3:c.243_246delinsG NP_036354.1:p.Tyr81Ter
NR_146882.1:n.426_429delinsG
NR_146882.2:n.396_399delinsG
NR_146883.1:n.314_317delinsG
NR_146883.2:n.319_322delinsG
ENST00000354383.10:c.171_174delinsG ENSP00000346354.6:p.Tyr57Ter
ENST00000355498.6:c.168_171delinsG ENSP00000347685.2:p.Tyr56Ter
ENST00000372098.7:c.243_246delinsG ENSP00000361170.3:p.Tyr81Ter
ENST00000372104.5:c.168_171delinsG ENSP00000361176.1:p.Tyr56Ter
ENST00000372110.7:c.213_216delinsG ENSP00000361182.3:p.Tyr71Ter
ENST00000372115.7:c.210_213delinsG ENSP00000361187.3:p.Tyr70Ter
ENST00000412971.5:c.37-675_37-672delinsG ENSP00000410263.1:n.37-675_37-672delinsG
ENST00000412971.6:c.37-675_37-672delinsG ENSP00000410263.2:n.37-675_37-672delinsG
ENST00000435155.1:c.201_204delinsG ENSP00000403655.1:p.Tyr67Ter
ENST00000435155.2:c.201_204delinsG ENSP00000403655.2:p.Tyr67Ter
ENST00000448481.5:c.201_204delinsG ENSP00000409718.1:p.Tyr67Ter
ENST00000450313.5:c.252_255delinsG ENSP00000408176.1:p.Tyr84Ter
ENST00000450313.6:c.252_255delinsG ENSP00000408176.2:p.Tyr84Ter
ENST00000456914.6:c.168_171delinsG ENSP00000407590.2:p.Tyr56Ter
ENST00000461495.5:c.158-12_158-9delinsG ENSP00000437166.1:n.158-12_158-9delinsG
ENST00000461495.6:c.158-12_158-9delinsG ENSP00000437166.1:n.158-12_158-9delinsG
ENST00000462387.5:n.336-185_336-182delinsG
ENST00000467459.6:c.168_171delinsG ENSP00000435889.2:p.Tyr56Ter
ENST00000467940.5:c.*91_*94delinsG ENSP00000436478.1:n.*91_*94delinsG
ENST00000470256.5:c.171_174delinsG ENSP00000434985.1:p.Tyr57Ter
ENST00000474703.1:n.323_326delinsG
ENST00000475516.5:c.116-12_116-9delinsG ENSP00000433843.1:n.116-12_116-9delinsG
ENST00000476789.5:n.388_391delinsG
ENST00000479746.6:n.231_234delinsG
ENST00000481139.5:n.319-12_319-9delinsG
ENST00000481571.5:c.158-12_158-9delinsG ENSP00000436597.1:n.158-12_158-9delinsG
ENST00000483127.1:c.186_189delinsG ENSP00000436469.1:p.Tyr62Ter
ENST00000483127.2:c.186_189delinsG ENSP00000436469.2:p.Tyr62Ter
ENST00000483642.5:n.349_352delinsG
ENST00000485271.6:c.168_171delinsG ENSP00000431264.2:p.Tyr56Ter
ENST00000485484.5:n.218_221delinsG
ENST00000488731.6:c.116-675_116-672delinsG ENSP00000432330.1:n.116-675_116-672delinsG
ENST00000492494.5:n.231_234delinsG
ENST00000525160.5:c.158-185_158-182delinsG ENSP00000431568.1:n.158-185_158-182delinsG
ENST00000528013.6:c.210_213delinsG ENSP00000433130.2:p.Tyr70Ter
ENST00000529892.6:c.210_213delinsG ENSP00000432528.2:p.Tyr70Ter
ENST00000529984.5:c.116-675_116-672delinsG ENSP00000437093.1:n.116-675_116-672delinsG
ENST00000531105.5:c.115+882_115+885delinsG ENSP00000431292.1:n.115+882_115+885delinsG
ENST00000533178.5:c.122-822_122-819delinsG ENSP00000436430.1:n.122-822_122-819delinsG
ENST00000533178.6:c.116-822_116-819delinsG ENSP00000436430.2:n.116-822_116-819delinsG
ENST00000671856.1:n.188_191delinsG
ENST00000671898.1:c.756_759delinsG ENSP00000499896.1:p.Tyr252Ter
ENST00000672011.1:c.210_213delinsG ENSP00000500418.1:p.Tyr70Ter
ENST00000672314.1:c.168_171delinsG ENSP00000500828.1:p.Tyr56Ter
ENST00000672314.2:c.168_171delinsG ENSP00000500828.2:p.Tyr56Ter
ENST00000672593.1:c.116-12_116-9delinsG ENSP00000500455.1:n.116-12_116-9delinsG
ENST00000672764.1:c.201_204delinsG ENSP00000500886.1:p.Tyr67Ter
ENST00000672818.2:c.243_246delinsG ENSP00000500891.1:p.Tyr81Ter
ENST00000672818.3:c.243_246delinsG ENSP00000500891.1:p.Tyr81Ter
ENST00000673134.1:c.116-12_116-9delinsG ENSP00000500526.1:n.116-12_116-9delinsG
ENST00000674679.1:c.196_199delinsG ENSP00000501623.1:n.196_199delinsG
ENST00000674679.2:c.*80_*83delinsG ENSP00000501623.2:n.*80_*83delinsG
XM_011541497.1:c.228_231delinsG XP_011539799.1:p.Tyr76Ter
XM_011541497.3:c.228_231delinsG XP_011539799.1:p.Tyr76Ter
XM_011541498.1:c.210_213delinsG XP_011539800.1:p.Tyr70Ter
XM_011541499.1:c.210_213delinsG XP_011539801.1:p.Tyr70Ter
XM_011541500.1:c.210_213delinsG XP_011539802.1:p.Tyr70Ter
XM_011541500.3:c.210_213delinsG XP_011539802.1:p.Tyr70Ter
XM_011541501.1:c.210_213delinsG XP_011539803.1:p.Tyr70Ter
XM_011541501.2:c.210_213delinsG XP_011539803.1:p.Tyr70Ter
XM_011541502.1:c.210_213delinsG XP_011539804.1:p.Tyr70Ter
XM_011541502.2:c.210_213delinsG XP_011539804.1:p.Tyr70Ter
XM_011541503.1:c.252_255delinsG XP_011539805.1:p.Tyr84Ter
XM_011541503.2:c.252_255delinsG XP_011539805.1:p.Tyr84Ter
XM_011541504.1:c.201_204delinsG XP_011539806.1:p.Tyr67Ter
XM_011541504.2:c.201_204delinsG XP_011539806.1:p.Tyr67Ter
XM_011541505.1:c.43-675_43-672delinsG XP_011539807.1:n.43-675_43-672delinsG
XM_011541505.2:c.43-675_43-672delinsG XP_011539807.1:n.43-675_43-672delinsG
XM_011541506.1:c.43-675_43-672delinsG XP_011539808.1:n.43-675_43-672delinsG
XM_011541506.2:c.43-675_43-672delinsG XP_011539808.1:n.43-675_43-672delinsG
XM_017001331.1:c.210_213delinsG XP_016856820.1:p.Tyr70Ter
XM_017001332.1:c.210_213delinsG XP_016856821.1:p.Tyr70Ter
XM_017001333.1:c.210_213delinsG XP_016856822.1:p.Tyr70Ter
XM_017001334.1:c.171_174delinsG XP_016856823.1:p.Tyr57Ter
XM_017001335.1:c.-97-12_-97-9delinsG XP_016856824.1:n.-97-12_-97-9delinsG
XM_017001336.1:c.-104_-101delinsG XP_016856825.1:n.-104_-101delinsG
XM_017001337.1:c.-104_-101delinsG XP_016856826.1:n.-104_-101delinsG
XM_024447244.1:c.-104_-101delinsG XP_024303012.1:n.-104_-101delinsG
XM_024447245.1:c.-104_-101delinsG XP_024303013.1:n.-104_-101delinsG
XM_024447248.1:c.-104_-101delinsG XP_024303016.1:n.-104_-101delinsG
XM_024447249.1:c.-600_-597delinsG XP_024303017.1:n.-600_-597delinsG
XM_024447250.1:c.-600_-597delinsG XP_024303018.1:n.-600_-597delinsG
XM_024447251.1:c.-346-12_-346-9delinsG XP_024303019.1:n.-346-12_-346-9delinsG
XR_001737190.1:n.225-12_225-9delinsG
XR_001737192.1:n.153-12_153-9delinsG
XR_002956643.1:n.333-12_333-9delinsG
XR_002956644.1:n.406_409delinsG
XR_946658.1:n.299_302delinsG
XR_946658.2:n.313_316delinsG
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