Canonical Allele Identifier: CA2580063291

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 2089999
• ClinVar RCV Id: RCV003005744

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45334404_45334405insCA , CM000663.2:g.45334404_45334405insCA	GRCh38
NC_000001.10:g.45800076_45800077insCA , CM000663.1:g.45800076_45800077insCA	GRCh37
NC_000001.9:g.45572663_45572664insCA	NCBI36
NG_008189.1:g.11067_11068insGT , LRG_220:g.11067_11068insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-1570_37-1569insGT	ENSP00000410263.2:n.37-1570_37-1569insGT
ENST00000435155.2:c.102_103insGT	ENSP00000403655.2:p.Ser35ValfsTer7
ENST00000467459.6:c.102_103insGT	ENSP00000435889.2:p.Ser35ValfsTer29
ENST00000483127.2:c.120_121insGT	ENSP00000436469.2:p.Ser41ValfsTer29
ENST00000485271.6:c.102_103insGT	ENSP00000431264.2:p.Ser35ValfsTer29
ENST00000529892.6:c.144_145insGT	ENSP00000432528.2:p.Ser49ValfsTer29
ENST00000533178.6:c.102_103insGT	ENSP00000436430.2:p.Ser35ValfsTer?
ENST00000672314.2:c.102_103insGT	ENSP00000500828.2:p.Ser35ValfsTer29
ENST00000674679.2:c.102_103insGT	ENSP00000501623.2:p.Ser35ValfsTer17
ENST00000710952.2:c.144_145insGT MANE Plus Clinical	ENSP00000518552.2:p.Ser49ValfsTer10
ENST00000672818.3:c.144_145insGT	ENSP00000500891.1:p.Ser49ValfsTer7
ENST00000450313.6:c.144_145insGT	ENSP00000408176.2:p.Ser49ValfsTer10
ENST00000456914.7:c.102_103insGT MANE Select	ENSP00000407590.2:p.Ser35ValfsTer29
ENST00000461495.6:c.144_145insGT	ENSP00000437166.1:p.Ser49ValfsTer9
ENST00000671856.1:n.122_123insGT
ENST00000671898.1:c.648_649insGT	ENSP00000499896.1:p.Ser217ValfsTer10
ENST00000672011.1:c.144_145insGT	ENSP00000500418.1:p.Ser49ValfsTer29
ENST00000672314.1:c.102_103insGT	ENSP00000500828.1:p.Ser35ValfsTer29
ENST00000672593.1:c.102_103insGT	ENSP00000500455.1:p.Ser35ValfsTer9
ENST00000672764.1:c.102_103insGT	ENSP00000500886.1:p.Ser35ValfsTer7
ENST00000672818.2:c.144_145insGT	ENSP00000500891.1:p.Ser49ValfsTer7
ENST00000673134.1:c.102_103insGT	ENSP00000500526.1:p.Ser35ValfsTer9
ENST00000674679.1:c.74_75insGT	ENSP00000501623.1:p.Leu26PhefsTer4
ENST00000354383.10:c.102_103insGT	ENSP00000346354.6:p.Ser35ValfsTer30
ENST00000355498.6:c.102_103insGT	ENSP00000347685.2:p.Ser35ValfsTer29
ENST00000372098.7:c.144_145insGT	ENSP00000361170.3:p.Ser49ValfsTer7
ENST00000372104.5:c.102_103insGT	ENSP00000361176.1:p.Ser35ValfsTer29
ENST00000372110.7:c.144_145insGT	ENSP00000361182.3:p.Ser49ValfsTer30
ENST00000372115.7:c.144_145insGT	ENSP00000361187.3:p.Ser49ValfsTer29
ENST00000412971.5:c.37-1570_37-1569insGT	ENSP00000410263.1:n.37-1570_37-1569insGT
ENST00000435155.1:c.102_103insGT	ENSP00000403655.1:p.Ser35ValfsTer7
ENST00000448481.5:c.102_103insGT	ENSP00000409718.1:p.Ser35ValfsTer7
ENST00000450313.5:c.144_145insGT	ENSP00000408176.1:p.Ser49ValfsTer10
ENST00000456914.6:c.102_103insGT	ENSP00000407590.2:p.Ser35ValfsTer29
ENST00000461495.5:c.144_145insGT	ENSP00000437166.1:p.Ser49ValfsTer9
ENST00000462387.5:n.322_323insGT
ENST00000467940.5:c.*22_*23insGT	ENSP00000436478.1:n.*22_*23insGT
ENST00000470256.5:c.102_103insGT	ENSP00000434985.1:p.Ser35ValfsTer30
ENST00000474703.1:n.224_225insGT
ENST00000475516.5:c.102_103insGT	ENSP00000433843.1:p.Ser35ValfsTer9
ENST00000476789.5:n.322_323insGT
ENST00000479746.6:n.165_166insGT
ENST00000481139.5:n.305_306insGT
ENST00000481571.5:c.144_145insGT	ENSP00000436597.1:p.Ser49ValfsTer9
ENST00000483127.1:c.120_121insGT	ENSP00000436469.1:p.Ser41ValfsTer29
ENST00000483642.5:n.283_284insGT
ENST00000485484.5:n.152_153insGT
ENST00000488731.6:c.102_103insGT	ENSP00000432330.1:p.Ser35ValfsTer?
ENST00000492494.5:n.165_166insGT
ENST00000525160.5:c.144_145insGT	ENSP00000431568.1:p.Ser49ValfsTer?
ENST00000528013.6:c.102_103insGT	ENSP00000433130.2:p.Ser35ValfsTer10
ENST00000529984.5:c.102_103insGT	ENSP00000437093.1:p.Ser35ValfsTer?
ENST00000531105.5:c.102_103insGT	ENSP00000431292.1:p.Ser35ValfsTer?
ENST00000533178.5:c.108_109insGT	ENSP00000436430.1:p.Ser37ValfsTer?
ENST00000534453.1:n.368_369insGT
NM_001048171.1:c.144_145insGT	NP_001041636.1:p.Ser49ValfsTer29
NM_001048172.1:c.102_103insGT	NP_001041637.1:p.Ser35ValfsTer30
NM_001048173.1:c.102_103insGT	NP_001041638.1:p.Ser35ValfsTer29
NM_001048174.1:c.102_103insGT	NP_001041639.1:p.Ser35ValfsTer29
NM_001128425.1:c.144_145insGT , LRG_220t1:c.144_145insGT	NP_001121897.1:p.Ser49ValfsTer10
NM_001293190.1:c.144_145insGT	NP_001280119.1:p.Ser49ValfsTer30
NM_001293191.1:c.102_103insGT	NP_001280120.1:p.Ser35ValfsTer7
NM_001293192.1:c.-111_-110insGT	NP_001280121.1:n.-111_-110insGT
NM_001293195.1:c.102_103insGT	NP_001280124.1:p.Ser35ValfsTer29
NM_001293196.1:c.-111_-110insGT	NP_001280125.1:n.-111_-110insGT
NM_012222.2:c.144_145insGT	NP_036354.1:p.Ser49ValfsTer7
XM_011541497.1:c.120_121insGT	XP_011539799.1:p.Ser41ValfsTer10
XM_011541498.1:c.102_103insGT	XP_011539800.1:p.Ser35ValfsTer10
XM_011541499.1:c.102_103insGT	XP_011539801.1:p.Ser35ValfsTer10
XM_011541500.1:c.102_103insGT	XP_011539802.1:p.Ser35ValfsTer10
XM_011541501.1:c.102_103insGT	XP_011539803.1:p.Ser35ValfsTer10
XM_011541502.1:c.102_103insGT	XP_011539804.1:p.Ser35ValfsTer10
XM_011541503.1:c.144_145insGT	XP_011539805.1:p.Ser49ValfsTer10
XM_011541504.1:c.102_103insGT	XP_011539806.1:p.Ser35ValfsTer7
XM_011541505.1:c.29_30insGT	XP_011539807.1:p.Leu11PhefsTer4
XM_011541506.1:c.29_30insGT	XP_011539808.1:p.Leu11PhefsTer4
XR_946658.1:n.191_192insGT
NM_001350650.1:c.-170_-169insGT	NP_001337579.1:n.-170_-169insGT
NM_001350651.1:c.-106_-105insGT	NP_001337580.1:n.-106_-105insGT
NR_146882.1:n.360_361insGT
NR_146883.1:n.248_249insGT
XM_011541497.3:c.120_121insGT	XP_011539799.1:p.Ser41ValfsTer10
XM_011541500.3:c.102_103insGT	XP_011539802.1:p.Ser35ValfsTer10
XM_011541501.2:c.102_103insGT	XP_011539803.1:p.Ser35ValfsTer10
XM_011541502.2:c.102_103insGT	XP_011539804.1:p.Ser35ValfsTer10
XM_011541503.2:c.144_145insGT	XP_011539805.1:p.Ser49ValfsTer10
XM_011541504.2:c.102_103insGT	XP_011539806.1:p.Ser35ValfsTer7
XM_011541505.2:c.29_30insGT	XP_011539807.1:p.Leu11PhefsTer4
XM_011541506.2:c.29_30insGT	XP_011539808.1:p.Leu11PhefsTer4
XM_017001331.1:c.102_103insGT	XP_016856820.1:p.Ser35ValfsTer10
XM_017001332.1:c.102_103insGT	XP_016856821.1:p.Ser35ValfsTer10
XM_017001333.1:c.102_103insGT	XP_016856822.1:p.Ser35ValfsTer10
XM_017001334.1:c.102_103insGT	XP_016856823.1:p.Ser35ValfsTer30
XM_017001335.1:c.-111_-110insGT	XP_016856824.1:n.-111_-110insGT
XM_017001336.1:c.-203_-202insGT	XP_016856825.1:n.-203_-202insGT
XM_017001337.1:c.-203_-202insGT	XP_016856826.1:n.-203_-202insGT
XM_024447244.1:c.-212_-211insGT	XP_024303012.1:n.-212_-211insGT
XM_024447245.1:c.-173_-172insGT	XP_024303013.1:n.-173_-172insGT
XM_024447248.1:c.-170_-169insGT	XP_024303016.1:n.-170_-169insGT
XM_024447249.1:c.-666_-665insGT	XP_024303017.1:n.-666_-665insGT
XM_024447250.1:c.-669_-668insGT	XP_024303018.1:n.-669_-668insGT
XM_024447251.1:c.-360_-359insGT	XP_024303019.1:n.-360_-359insGT
XR_001737190.1:n.211_212insGT
XR_001737192.1:n.139_140insGT
XR_002956643.1:n.319_320insGT
XR_002956644.1:n.337_338insGT
XR_946658.2:n.205_206insGT
NM_001048171.2:c.102_103insGT	NP_001041636.2:p.Ser35ValfsTer29
NM_001128425.2:c.144_145insGT MANE Plus Clinical	NP_001121897.1:p.Ser49ValfsTer10
NM_001048172.2:c.102_103insGT	NP_001041637.1:p.Ser35ValfsTer30
NM_001048173.2:c.102_103insGT	NP_001041638.1:p.Ser35ValfsTer29
NM_001048174.2:c.102_103insGT MANE Select	NP_001041639.1:p.Ser35ValfsTer29
NM_001293190.2:c.144_145insGT	NP_001280119.1:p.Ser49ValfsTer30
NM_001293191.2:c.102_103insGT	NP_001280120.1:p.Ser35ValfsTer7
NM_001293192.2:c.-111_-110insGT	NP_001280121.1:n.-111_-110insGT
NM_001293195.2:c.102_103insGT	NP_001280124.1:p.Ser35ValfsTer29
NM_001293196.2:c.-111_-110insGT	NP_001280125.1:n.-111_-110insGT
NM_001350650.2:c.-170_-169insGT	NP_001337579.1:n.-170_-169insGT
NM_001350651.2:c.-106_-105insGT	NP_001337580.1:n.-106_-105insGT
NM_012222.3:c.144_145insGT	NP_036354.1:p.Ser49ValfsTer7
NR_146882.2:n.330_331insGT
NR_146883.2:n.253_254insGT