Canonical Allele Identifier: CA2991011045
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332200dup , CM000663.2:g.45332200dup GRCh38
NC_000001.10:g.45797872dup , CM000663.1:g.45797872dup GRCh37
NC_000001.9:g.45570459dup NCBI36
NG_008189.1:g.13271dup , LRG_220:g.13271dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.431dup ENSP00000410263.2:p.Cys144TrpfsTer29
ENST00000435155.2:c.848dup ENSP00000403655.2:p.Cys283TrpfsTer29
ENST00000467459.6:c.815dup ENSP00000435889.2:p.Cys272TrpfsTer29
ENST00000483127.2:c.833dup ENSP00000436469.2:p.Cys278TrpfsTer29
ENST00000485271.6:c.815dup ENSP00000431264.2:p.Cys272TrpfsTer29
ENST00000529892.6:c.857dup ENSP00000432528.2:p.Cys286TrpfsTer29
ENST00000533178.6:c.*144dup ENSP00000436430.2:n.*144dup
ENST00000672314.2:c.815dup ENSP00000500828.2:p.Cys272TrpfsTer29
ENST00000710952.2:c.899dup MANE Plus Clinical ENSP00000518552.2:p.Cys300TrpfsTer29
ENST00000672818.3:c.890dup ENSP00000500891.1:p.Cys297TrpfsTer29
ENST00000450313.6:c.*144dup ENSP00000408176.2:n.*144dup
ENST00000456914.7:c.815dup MANE Select ENSP00000407590.2:p.Cys272TrpfsTer29
ENST00000461495.6:c.*554dup ENSP00000437166.1:n.*554dup
ENST00000671898.1:c.1403dup ENSP00000499896.1:p.Cys468TrpfsTer29
ENST00000672011.1:c.*144dup ENSP00000500418.1:n.*144dup
ENST00000672314.1:c.815dup ENSP00000500828.1:p.Cys272TrpfsTer29
ENST00000672593.1:c.*868dup ENSP00000500455.1:n.*868dup
ENST00000672764.1:c.*144dup ENSP00000500886.1:n.*144dup
ENST00000672818.2:c.890dup ENSP00000500891.1:p.Cys297TrpfsTer29
ENST00000673134.1:c.*512dup ENSP00000500526.1:n.*512dup
ENST00000354383.10:c.818dup ENSP00000346354.6:p.Cys273TrpfsTer29
ENST00000355498.6:c.815dup ENSP00000347685.2:p.Cys272TrpfsTer29
ENST00000372098.7:c.890dup ENSP00000361170.3:p.Cys297TrpfsTer29
ENST00000372104.5:c.815dup ENSP00000361176.1:p.Cys272TrpfsTer29
ENST00000372110.7:c.860dup ENSP00000361182.3:p.Cys287TrpfsTer29
ENST00000372115.7:c.857dup ENSP00000361187.3:p.Cys286TrpfsTer29
ENST00000412971.5:c.431dup ENSP00000410263.1:p.Cys144TrpfsTer29
ENST00000435155.1:c.848dup ENSP00000403655.1:p.Cys283TrpfsTer?
ENST00000448481.5:c.848dup ENSP00000409718.1:p.Cys283TrpfsTer29
ENST00000450313.5:c.899dup ENSP00000408176.1:p.Cys300TrpfsTer29
ENST00000456914.6:c.815dup ENSP00000407590.2:p.Cys272TrpfsTer29
ENST00000461495.5:c.*554dup ENSP00000437166.1:n.*554dup
ENST00000462388.5:n.506dup
ENST00000466231.1:n.180dup
ENST00000467459.5:c.209dup ENSP00000435889.1:p.Cys70TrpfsTer29
ENST00000470256.5:c.*144dup ENSP00000434985.1:n.*144dup
ENST00000475516.5:c.*628dup ENSP00000433843.1:n.*628dup
ENST00000481571.5:c.*628dup ENSP00000436597.1:n.*628dup
ENST00000488731.6:c.187+563dup ENSP00000432330.1:n.187+563dup
ENST00000528013.6:c.857dup ENSP00000433130.2:p.Cys286TrpfsTer29
ENST00000529892.5:c.79dup
ENST00000529984.5:c.187+563dup ENSP00000437093.1:n.187+563dup
ENST00000531105.5:c.115+2191dup ENSP00000431292.1:n.115+2191dup
ENST00000533178.5:c.444dup ENSP00000436430.1:n.444dup
NM_001048171.1:c.857dup NP_001041636.1:p.Cys286TrpfsTer29
NM_001048172.1:c.818dup NP_001041637.1:p.Cys273TrpfsTer29
NM_001048173.1:c.815dup NP_001041638.1:p.Cys272TrpfsTer29
NM_001048174.1:c.815dup NP_001041639.1:p.Cys272TrpfsTer29
NM_001128425.1:c.899dup , LRG_220t1:c.899dup NP_001121897.1:p.Cys300TrpfsTer29
NM_001293190.1:c.860dup NP_001280119.1:p.Cys287TrpfsTer29
NM_001293191.1:c.848dup NP_001280120.1:p.Cys283TrpfsTer29
NM_001293192.1:c.539dup NP_001280121.1:p.Cys180TrpfsTer29
NM_001293195.1:c.815dup NP_001280124.1:p.Cys272TrpfsTer29
NM_001293196.1:c.539dup NP_001280125.1:p.Cys180TrpfsTer29
NM_012222.2:c.890dup NP_036354.1:p.Cys297TrpfsTer29
XM_011541497.1:c.875dup XP_011539799.1:p.Cys292TrpfsTer29
XM_011541498.1:c.857dup XP_011539800.1:p.Cys286TrpfsTer29
XM_011541499.1:c.857dup XP_011539801.1:p.Cys286TrpfsTer29
XM_011541500.1:c.857dup XP_011539802.1:p.Cys286TrpfsTer29
XM_011541501.1:c.857dup XP_011539803.1:p.Cys286TrpfsTer29
XM_011541502.1:c.857dup XP_011539804.1:p.Cys286TrpfsTer29
XM_011541503.1:c.857dup XP_011539805.1:p.Cys286TrpfsTer29
XM_011541504.1:c.848dup XP_011539806.1:p.Cys283TrpfsTer29
XM_011541505.1:c.437dup XP_011539807.1:p.Cys146TrpfsTer29
XM_011541506.1:c.437dup XP_011539808.1:p.Cys146TrpfsTer29
XM_011541507.1:c.428dup XP_011539809.1:p.Cys143TrpfsTer29
XM_011541508.1:c.443dup XP_011539810.1:p.Cys148TrpfsTer29
XR_946658.1:n.946dup
NM_001350650.1:c.470dup NP_001337579.1:p.Cys157TrpfsTer29
NM_001350651.1:c.470dup NP_001337580.1:p.Cys157TrpfsTer29
NR_146882.1:n.1073dup
NR_146883.1:n.887dup
XM_011541497.3:c.875dup XP_011539799.1:p.Cys292TrpfsTer29
XM_011541500.3:c.857dup XP_011539802.1:p.Cys286TrpfsTer29
XM_011541501.2:c.857dup XP_011539803.1:p.Cys286TrpfsTer29
XM_011541502.2:c.857dup XP_011539804.1:p.Cys286TrpfsTer29
XM_011541503.2:c.857dup XP_011539805.1:p.Cys286TrpfsTer29
XM_011541504.2:c.848dup XP_011539806.1:p.Cys283TrpfsTer29
XM_011541505.2:c.437dup XP_011539807.1:p.Cys146TrpfsTer29
XM_011541506.2:c.437dup XP_011539808.1:p.Cys146TrpfsTer29
XM_017001331.1:c.857dup XP_016856820.1:p.Cys286TrpfsTer29
XM_017001332.1:c.857dup XP_016856821.1:p.Cys286TrpfsTer29
XM_017001333.1:c.857dup XP_016856822.1:p.Cys286TrpfsTer29
XM_017001334.1:c.818dup XP_016856823.1:p.Cys273TrpfsTer29
XM_017001335.1:c.539dup XP_016856824.1:p.Cys180TrpfsTer29
XM_017001336.1:c.470dup XP_016856825.1:p.Cys157TrpfsTer29
XM_017001337.1:c.470dup XP_016856826.1:p.Cys157TrpfsTer29
XM_024447244.1:c.470dup XP_024303012.1:p.Cys157TrpfsTer29
XM_024447245.1:c.470dup XP_024303013.1:p.Cys157TrpfsTer29
XM_024447248.1:c.428dup XP_024303016.1:p.Cys143TrpfsTer29
XM_024447249.1:c.299dup XP_024303017.1:p.Cys100TrpfsTer29
XM_024447250.1:c.299dup XP_024303018.1:p.Cys100TrpfsTer29
XM_024447251.1:c.299dup XP_024303019.1:p.Cys100TrpfsTer29
XR_001737190.1:n.860dup
XR_001737192.1:n.672dup
XR_002956643.1:n.852dup
XR_002956644.1:n.1387dup
XR_946658.2:n.960dup
NM_001048171.2:c.815dup NP_001041636.2:p.Cys272TrpfsTer29
NM_001128425.2:c.899dup MANE Plus Clinical NP_001121897.1:p.Cys300TrpfsTer29
NM_001048172.2:c.818dup NP_001041637.1:p.Cys273TrpfsTer29
NM_001048173.2:c.815dup NP_001041638.1:p.Cys272TrpfsTer29
NM_001048174.2:c.815dup MANE Select NP_001041639.1:p.Cys272TrpfsTer29
NM_001293190.2:c.860dup NP_001280119.1:p.Cys287TrpfsTer29
NM_001293191.2:c.848dup NP_001280120.1:p.Cys283TrpfsTer29
NM_001293192.2:c.539dup NP_001280121.1:p.Cys180TrpfsTer29
NM_001293195.2:c.815dup NP_001280124.1:p.Cys272TrpfsTer29
NM_001293196.2:c.539dup NP_001280125.1:p.Cys180TrpfsTer29
NM_001350650.2:c.470dup NP_001337579.1:p.Cys157TrpfsTer29
NM_001350651.2:c.470dup NP_001337580.1:p.Cys157TrpfsTer29
NM_012222.3:c.890dup NP_036354.1:p.Cys297TrpfsTer29
NR_146882.2:n.1043dup
NR_146883.2:n.892dup