Canonical Allele Identifier: CA1139656110
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340249_45340255dup , CM000663.2:g.45340249_45340255dup GRCh38
NC_000001.10:g.45805921_45805927dup , CM000663.1:g.45805921_45805927dup GRCh37
NC_000001.9:g.45578508_45578514dup NCBI36
NG_008189.1:g.5217_5223dup , LRG_220:g.5217_5223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.1_7dup (MUTYH) ENSP00000410263.2:p.Pro3HisfsTer?
ENST00000529892.6:c.1_7dup (MUTYH) ENSP00000432528.2:p.Pro3HisfsTer?
ENST00000710952.2:c.1_7dup (MUTYH) MANE Plus Clinical ENSP00000518552.2:p.Pro3HisfsTer?
ENST00000672818.3:c.1_7dup (MUTYH) ENSP00000500891.1:p.Pro3HisfsTer?
ENST00000372090.6:c.-4_3dup (TOE1) MANE Select ENSP00000361162.5:p.Ala2CysfsTer7
ENST00000450313.6:c.1_7dup (MUTYH) ENSP00000408176.2:p.Pro3HisfsTer?
ENST00000461495.6:c.1_7dup (MUTYH) ENSP00000437166.1:p.Pro3HisfsTer?
ENST00000671898.1:c.541-5743_541-5737dup ENSP00000499896.1:n.541-5743_541-5737dup
ENST00000672011.1:c.1_7dup (MUTYH) ENSP00000500418.1:p.Pro3HisfsTer?
ENST00000672818.2:c.1_7dup (MUTYH) ENSP00000500891.1:p.Pro3HisfsTer?
ENST00000372090.5:c.-4_3dup (TOE1) ENSP00000361162.5:p.Ala2CysfsTer7
ENST00000372098.7:c.1_7dup (MUTYH) ENSP00000361170.3:p.Pro3HisfsTer?
ENST00000372110.7:c.1_7dup (MUTYH) ENSP00000361182.3:p.Pro3HisfsTer?
ENST00000372115.7:c.1_7dup (MUTYH) ENSP00000361187.3:p.Pro3HisfsTer?
ENST00000412971.5:c.1_7dup (MUTYH) ENSP00000410263.1:p.Pro3HisfsTer?
ENST00000450313.5:c.1_7dup (MUTYH) ENSP00000408176.1:p.Pro3HisfsTer?
ENST00000461495.5:c.1_7dup (MUTYH) ENSP00000437166.1:p.Pro3HisfsTer?
ENST00000462387.5:n.179_185dup (MUTYH)
ENST00000467940.5:c.1_7dup (MUTYH) ENSP00000436478.1:p.Pro3HisfsTer21
ENST00000471337.5:n.75_81dup (TOE1)
ENST00000476789.5:n.179_185dup (MUTYH)
ENST00000477731.5:n.198_204dup (TOE1)
ENST00000481139.5:n.162_168dup (MUTYH)
ENST00000481571.5:c.1_7dup (MUTYH) ENSP00000436597.1:p.Pro3HisfsTer?
ENST00000483642.5:n.144_150dup (MUTYH)
ENST00000495703.5:n.29_35dup (TOE1)
ENST00000525160.5:c.1_7dup (MUTYH) ENSP00000431568.1:p.Pro3HisfsTer?
ENST00000529984.5:c.-42_-36dup (MUTYH) ENSP00000437093.1:n.-42_-36dup
NM_001048171.1:c.1_7dup (MUTYH) NP_001041636.1:p.Pro3HisfsTer?
NM_001128425.1:c.1_7dup , LRG_220t1:c.1_7dup (MUTYH) NP_001121897.1:p.Pro3HisfsTer?
NM_001293190.1:c.1_7dup (MUTYH) NP_001280119.1:p.Pro3HisfsTer?
NM_001293192.1:c.-254_-248dup (MUTYH) NP_001280121.1:n.-254_-248dup
NM_012222.2:c.1_7dup (MUTYH) NP_036354.1:p.Pro3HisfsTer?
NM_025077.3:c.-4_3dup (TOE1) NP_079353.3:p.Ala2CysfsTer7
XM_005270412.2:c.-4_3dup (TOE1) XP_005270469.1:p.Ala2CysfsTer7
XM_005270413.3:c.-380_-374dup (TOE1) XP_005270470.1:n.-380_-374dup
XM_011540569.1:c.-288_-282dup (TOE1) XP_011538871.1:n.-288_-282dup
XM_011541503.1:c.1_7dup (MUTYH) XP_011539805.1:p.Pro3HisfsTer?
XM_011541505.1:c.-115_-109dup (MUTYH) XP_011539807.1:n.-115_-109dup
XR_246230.2:n.274_280dup (TOE1)
XR_426587.2:n.76_82dup (TOE1)
XR_946532.1:n.76_82dup (TOE1)
XR_946658.1:n.48_54dup (MUTYH)
NM_001350650.1:c.-313_-307dup (MUTYH) NP_001337579.1:n.-313_-307dup
NM_001350651.1:c.-249_-243dup (MUTYH) NP_001337580.1:n.-249_-243dup
NR_146882.1:n.217_223dup (MUTYH)
XM_005270412.4:c.-4_3dup (TOE1) XP_005270469.1:p.Ala2CysfsTer7
XM_005270413.5:c.-380_-374dup (TOE1) XP_005270470.1:n.-380_-374dup
XM_011540569.3:c.-288_-282dup (TOE1) XP_011538871.1:n.-288_-282dup
XM_011541503.2:c.1_7dup (MUTYH) XP_011539805.1:p.Pro3HisfsTer?
XM_011541505.2:c.-115_-109dup (MUTYH) XP_011539807.1:n.-115_-109dup
XM_017001331.1:c.-58_-52dup (MUTYH) XP_016856820.1:n.-58_-52dup
XM_017001332.1:c.-38_-32dup (MUTYH) XP_016856821.1:n.-38_-32dup
XM_017001335.1:c.-270_-264dup (MUTYH) XP_016856824.1:n.-270_-264dup
XM_017001336.1:c.-346_-340dup (MUTYH) XP_016856825.1:n.-346_-340dup
XM_024447244.1:c.-355_-349dup (MUTYH) XP_024303012.1:n.-355_-349dup
XM_024447248.1:c.-313_-307dup (MUTYH) XP_024303016.1:n.-313_-307dup
XM_024447249.1:c.-805_-799dup (MUTYH) XP_024303017.1:n.-805_-799dup
XM_024447250.1:c.-828_-822dup (MUTYH) XP_024303018.1:n.-828_-822dup
XM_024452837.1:c.-380_-374dup (TOE1) XP_024308605.1:n.-380_-374dup
XR_001736951.2:n.184_190dup (TOE1)
XR_001737190.1:n.68_74dup (MUTYH)
XR_002956643.1:n.176_182dup (MUTYH)
XR_002956644.1:n.194_200dup (MUTYH)
XR_002959287.1:n.499_505dup (TOE1)
XR_246230.4:n.184_190dup (TOE1)
XR_426587.4:n.76_82dup (TOE1)
XR_946532.3:n.76_82dup (TOE1)
XR_946658.2:n.62_68dup (MUTYH)
NM_025077.4:c.-4_3dup (TOE1) MANE Select NP_079353.3:p.Ala2CysfsTer7
NM_001048171.2:c.-42_-36dup (MUTYH) NP_001041636.2:n.-42_-36dup
NM_001128425.2:c.1_7dup (MUTYH) MANE Plus Clinical NP_001121897.1:p.Pro3HisfsTer?
NM_001293190.2:c.1_7dup (MUTYH) NP_001280119.1:p.Pro3HisfsTer?
NM_001293192.2:c.-254_-248dup (MUTYH) NP_001280121.1:n.-254_-248dup
NM_001350650.2:c.-313_-307dup (MUTYH) NP_001337579.1:n.-313_-307dup
NM_001350651.2:c.-249_-243dup (MUTYH) NP_001337580.1:n.-249_-243dup
NM_012222.3:c.1_7dup (MUTYH) NP_036354.1:p.Pro3HisfsTer?
NR_146882.2:n.187_193dup (MUTYH)