Canonical Allele Identifier: CA2743431931
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332663_45332664insA , CM000663.2:g.45332663_45332664insA GRCh38
NC_000001.10:g.45798335_45798336insA , CM000663.1:g.45798335_45798336insA GRCh37
NC_000001.9:g.45570922_45570923insA NCBI36
NG_008189.1:g.12807_12808insT , LRG_220:g.12807_12808insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.132_133insT ENSP00000410263.2:p.Met45TyrfsTer?
ENST00000435155.2:c.549_550insT ENSP00000403655.2:p.Met184TyrfsTer?
ENST00000467459.6:c.516_517insT ENSP00000435889.2:p.Met173TyrfsTer?
ENST00000483127.2:c.534_535insT ENSP00000436469.2:p.Met179TyrfsTer?
ENST00000485271.6:c.516_517insT ENSP00000431264.2:p.Met173TyrfsTer?
ENST00000529892.6:c.558_559insT ENSP00000432528.2:p.Met187TyrfsTer?
ENST00000533178.6:c.139_140insT ENSP00000436430.2:p.His47LeufsTer?
ENST00000672314.2:c.516_517insT ENSP00000500828.2:p.Met173TyrfsTer?
ENST00000674679.2:c.*428_*429insT ENSP00000501623.2:n.*428_*429insT
ENST00000710952.2:c.600_601insT MANE Plus Clinical ENSP00000518552.2:p.Met201TyrfsTer?
ENST00000672818.3:c.591_592insT ENSP00000500891.1:p.Met198TyrfsTer?
ENST00000450313.6:c.526_527insT ENSP00000408176.2:p.His176LeufsTer?
ENST00000456914.7:c.516_517insT MANE Select ENSP00000407590.2:p.Met173TyrfsTer?
ENST00000461495.6:c.*255_*256insT ENSP00000437166.1:n.*255_*256insT
ENST00000671856.1:n.462_463insT
ENST00000671898.1:c.1104_1105insT ENSP00000499896.1:p.Met369TyrfsTer?
ENST00000672011.1:c.484_485insT ENSP00000500418.1:p.His162LeufsTer?
ENST00000672314.1:c.516_517insT ENSP00000500828.1:p.Met173TyrfsTer?
ENST00000672593.1:c.*404_*405insT ENSP00000500455.1:n.*404_*405insT
ENST00000672764.1:c.475_476insT ENSP00000500886.1:p.His159LeufsTer?
ENST00000672818.2:c.591_592insT ENSP00000500891.1:p.Met198TyrfsTer?
ENST00000673134.1:c.*213_*214insT ENSP00000500526.1:n.*213_*214insT
ENST00000674679.1:c.544_545insT ENSP00000501623.1:n.544_545insT
ENST00000354383.10:c.519_520insT ENSP00000346354.6:p.Met174TyrfsTer?
ENST00000355498.6:c.516_517insT ENSP00000347685.2:p.Met173TyrfsTer?
ENST00000372098.7:c.591_592insT ENSP00000361170.3:p.Met198TyrfsTer?
ENST00000372104.5:c.516_517insT ENSP00000361176.1:p.Met173TyrfsTer?
ENST00000372110.7:c.561_562insT ENSP00000361182.3:p.Met188TyrfsTer?
ENST00000372115.7:c.558_559insT ENSP00000361187.3:p.Met187TyrfsTer?
ENST00000412971.5:c.132_133insT ENSP00000410263.1:p.Met45TyrfsTer?
ENST00000435155.1:c.549_550insT ENSP00000403655.1:p.Met184TyrfsTer?
ENST00000448481.5:c.549_550insT ENSP00000409718.1:p.Met184TyrfsTer?
ENST00000450313.5:c.600_601insT ENSP00000408176.1:p.Met201TyrfsTer?
ENST00000456914.6:c.516_517insT ENSP00000407590.2:p.Met173TyrfsTer?
ENST00000461495.5:c.*255_*256insT ENSP00000437166.1:n.*255_*256insT
ENST00000462388.5:n.207_208insT
ENST00000467940.5:c.*439_*440insT ENSP00000436478.1:n.*439_*440insT
ENST00000470256.5:c.403_404insT ENSP00000434985.1:p.His135LeufsTer?
ENST00000475516.5:c.*329_*330insT ENSP00000433843.1:n.*329_*330insT
ENST00000478796.5:n.503_504insT
ENST00000479746.6:n.874_875insT
ENST00000481571.5:c.*329_*330insT ENSP00000436597.1:n.*329_*330insT
ENST00000483642.5:n.1031_1032insT
ENST00000488731.6:c.187+99_187+100insT ENSP00000432330.1:n.187+99_187+100insT
ENST00000492494.5:n.913_914insT
ENST00000525160.5:c.*167_*168insT ENSP00000431568.1:n.*167_*168insT
ENST00000528013.6:c.558_559insT ENSP00000433130.2:p.Met187TyrfsTer?
ENST00000529984.5:c.187+99_187+100insT ENSP00000437093.1:n.187+99_187+100insT
ENST00000531105.5:c.115+1727_115+1728insT ENSP00000431292.1:n.115+1727_115+1728insT
ENST00000533178.5:c.145_146insT ENSP00000436430.1:p.His49LeufsTer?
NM_001048171.1:c.558_559insT NP_001041636.1:p.Met187TyrfsTer?
NM_001048172.1:c.519_520insT NP_001041637.1:p.Met174TyrfsTer?
NM_001048173.1:c.516_517insT NP_001041638.1:p.Met173TyrfsTer?
NM_001048174.1:c.516_517insT NP_001041639.1:p.Met173TyrfsTer?
NM_001128425.1:c.600_601insT , LRG_220t1:c.600_601insT NP_001121897.1:p.Met201TyrfsTer?
NM_001293190.1:c.561_562insT NP_001280119.1:p.Met188TyrfsTer?
NM_001293191.1:c.549_550insT NP_001280120.1:p.Met184TyrfsTer?
NM_001293192.1:c.240_241insT NP_001280121.1:p.Met81TyrfsTer?
NM_001293195.1:c.516_517insT NP_001280124.1:p.Met173TyrfsTer?
NM_001293196.1:c.240_241insT NP_001280125.1:p.Met81TyrfsTer?
NM_012222.2:c.591_592insT NP_036354.1:p.Met198TyrfsTer?
XM_011541497.1:c.576_577insT XP_011539799.1:p.Met193TyrfsTer?
XM_011541498.1:c.558_559insT XP_011539800.1:p.Met187TyrfsTer?
XM_011541499.1:c.558_559insT XP_011539801.1:p.Met187TyrfsTer?
XM_011541500.1:c.558_559insT XP_011539802.1:p.Met187TyrfsTer?
XM_011541501.1:c.558_559insT XP_011539803.1:p.Met187TyrfsTer?
XM_011541502.1:c.558_559insT XP_011539804.1:p.Met187TyrfsTer?
XM_011541503.1:c.558_559insT XP_011539805.1:p.Met187TyrfsTer?
XM_011541504.1:c.549_550insT XP_011539806.1:p.Met184TyrfsTer?
XM_011541505.1:c.138_139insT XP_011539807.1:p.Met47TyrfsTer?
XM_011541506.1:c.138_139insT XP_011539808.1:p.Met47TyrfsTer?
XM_011541507.1:c.129_130insT XP_011539809.1:p.Met44TyrfsTer?
XM_011541508.1:c.144_145insT XP_011539810.1:p.Met49TyrfsTer?
XR_946658.1:n.647_648insT
NM_001350650.1:c.171_172insT NP_001337579.1:p.Met58TyrfsTer?
NM_001350651.1:c.171_172insT NP_001337580.1:p.Met58TyrfsTer?
NR_146882.1:n.774_775insT
NR_146883.1:n.588_589insT
XM_011541497.3:c.576_577insT XP_011539799.1:p.Met193TyrfsTer?
XM_011541500.3:c.558_559insT XP_011539802.1:p.Met187TyrfsTer?
XM_011541501.2:c.558_559insT XP_011539803.1:p.Met187TyrfsTer?
XM_011541502.2:c.558_559insT XP_011539804.1:p.Met187TyrfsTer?
XM_011541503.2:c.558_559insT XP_011539805.1:p.Met187TyrfsTer?
XM_011541504.2:c.549_550insT XP_011539806.1:p.Met184TyrfsTer?
XM_011541505.2:c.138_139insT XP_011539807.1:p.Met47TyrfsTer?
XM_011541506.2:c.138_139insT XP_011539808.1:p.Met47TyrfsTer?
XM_017001331.1:c.558_559insT XP_016856820.1:p.Met187TyrfsTer?
XM_017001332.1:c.558_559insT XP_016856821.1:p.Met187TyrfsTer?
XM_017001333.1:c.558_559insT XP_016856822.1:p.Met187TyrfsTer?
XM_017001334.1:c.519_520insT XP_016856823.1:p.Met174TyrfsTer?
XM_017001335.1:c.240_241insT XP_016856824.1:p.Met81TyrfsTer?
XM_017001336.1:c.171_172insT XP_016856825.1:p.Met58TyrfsTer?
XM_017001337.1:c.171_172insT XP_016856826.1:p.Met58TyrfsTer?
XM_024447244.1:c.171_172insT XP_024303012.1:p.Met58TyrfsTer?
XM_024447245.1:c.171_172insT XP_024303013.1:p.Met58TyrfsTer?
XM_024447248.1:c.129_130insT XP_024303016.1:p.Met44TyrfsTer?
XM_024447249.1:c.-1_1insT XP_024303017.1:p.Met1TyrfsTer?
XM_024447250.1:c.-1_1insT XP_024303018.1:p.Met1TyrfsTer?
XM_024447251.1:c.-1_1insT XP_024303019.1:p.Met1TyrfsTer?
XR_001737190.1:n.561_562insT
XR_001737192.1:n.373_374insT
XR_002956643.1:n.553_554insT
XR_002956644.1:n.1088_1089insT
XR_946658.2:n.661_662insT
NM_001048171.2:c.516_517insT NP_001041636.2:p.Met173TyrfsTer?
NM_001128425.2:c.600_601insT MANE Plus Clinical NP_001121897.1:p.Met201TyrfsTer?
NM_001048172.2:c.519_520insT NP_001041637.1:p.Met174TyrfsTer?
NM_001048173.2:c.516_517insT NP_001041638.1:p.Met173TyrfsTer?
NM_001048174.2:c.516_517insT MANE Select NP_001041639.1:p.Met173TyrfsTer?
NM_001293190.2:c.561_562insT NP_001280119.1:p.Met188TyrfsTer?
NM_001293191.2:c.549_550insT NP_001280120.1:p.Met184TyrfsTer?
NM_001293192.2:c.240_241insT NP_001280121.1:p.Met81TyrfsTer?
NM_001293195.2:c.516_517insT NP_001280124.1:p.Met173TyrfsTer?
NM_001293196.2:c.240_241insT NP_001280125.1:p.Met81TyrfsTer?
NM_001350650.2:c.171_172insT NP_001337579.1:p.Met58TyrfsTer?
NM_001350651.2:c.171_172insT NP_001337580.1:p.Met58TyrfsTer?
NM_012222.3:c.591_592insT NP_036354.1:p.Met198TyrfsTer?
NR_146882.2:n.744_745insT
NR_146883.2:n.593_594insT