Canonical Allele Identifier: CA658656919

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 464679
• ClinVar RCV Id: RCV001181313 ; RCV000558914
• dbSNP Id: rs1553126007
• MyVariant Identifiers: chr1:g.45797201_45797203dup (hg19) ; chr1:g.45331529_45331531dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331529_45331531dup , CM000663.2:g.45331529_45331531dup	GRCh38
NC_000001.10:g.45797201_45797203dup , CM000663.1:g.45797201_45797203dup	GRCh37
NC_000001.9:g.45569788_45569790dup	NCBI36
NG_008189.1:g.13940_13942dup , LRG_220:g.13940_13942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.744_746dup	ENSP00000410263.2:p.Pro249_Ser250insPro
ENST00000435155.2:c.1161_1163dup	ENSP00000403655.2:p.Pro388_Ser389insPro
ENST00000467459.6:c.1151_1153dup	ENSP00000435889.2:p.Ser384_Arg385insPro
ENST00000483127.2:c.1146_1148dup	ENSP00000436469.2:p.Pro383_Ser384insPro
ENST00000485271.6:c.1128_1130dup	ENSP00000431264.2:p.Pro377_Ser378insPro
ENST00000529892.6:c.981_983dup	ENSP00000432528.2:p.Pro328_Ser329insPro
ENST00000533178.6:c.*457_*459dup	ENSP00000436430.2:n.*457_*459dup
ENST00000672314.2:c.1128_1130dup	ENSP00000500828.2:p.Pro377_Ser378insPro
ENST00000710952.2:c.1212_1214dup MANE Plus Clinical	ENSP00000518552.2:p.Pro405_Ser406insPro
ENST00000672818.3:c.1203_1205dup	ENSP00000500891.1:p.Pro402_Ser403insPro
ENST00000456914.7:c.1128_1130dup MANE Select	ENSP00000407590.2:p.Pro377_Ser378insPro
ENST00000671898.1:c.1716_1718dup	ENSP00000499896.1:p.Pro573_Ser574insPro
ENST00000672011.1:c.*457_*459dup	ENSP00000500418.1:n.*457_*459dup
ENST00000672314.1:c.1128_1130dup	ENSP00000500828.1:p.Pro377_Ser378insPro
ENST00000672593.1:c.*1354_*1356dup	ENSP00000500455.1:n.*1354_*1356dup
ENST00000672818.2:c.1203_1205dup	ENSP00000500891.1:p.Pro402_Ser403insPro
ENST00000673134.1:c.*825_*827dup	ENSP00000500526.1:n.*825_*827dup
ENST00000354383.10:c.1131_1133dup	ENSP00000346354.6:p.Pro378_Ser379insPro
ENST00000355498.6:c.1128_1130dup	ENSP00000347685.2:p.Pro377_Ser378insPro
ENST00000372098.7:c.1203_1205dup	ENSP00000361170.3:p.Pro402_Ser403insPro
ENST00000372104.5:c.1128_1130dup	ENSP00000361176.1:p.Pro377_Ser378insPro
ENST00000372110.7:c.1173_1175dup	ENSP00000361182.3:p.Pro392_Ser393insPro
ENST00000372115.7:c.1170_1172dup	ENSP00000361187.3:p.Pro391_Ser392insPro
ENST00000448481.5:c.1161_1163dup	ENSP00000409718.1:p.Pro388_Ser389insPro
ENST00000450313.5:c.1212_1214dup	ENSP00000408176.1:p.Pro405_Ser406insPro
ENST00000456914.6:c.1128_1130dup	ENSP00000407590.2:p.Pro377_Ser378insPro
ENST00000467459.5:c.545_547dup	ENSP00000435889.1:p.Ser182_Arg183insPro
ENST00000475516.5:c.*941_*943dup	ENSP00000433843.1:n.*941_*943dup
ENST00000481571.5:c.*941_*943dup	ENSP00000436597.1:n.*941_*943dup
ENST00000482094.5:n.449_451dup
ENST00000488731.6:c.213_215dup	ENSP00000432330.1:p.Pro72_Ser73insPro
ENST00000528013.6:c.1170_1172dup	ENSP00000433130.2:p.Pro391_Ser392insPro
ENST00000529892.5:c.203_205dup
ENST00000529984.5:c.213_215dup	ENSP00000437093.1:p.Pro72_Ser73insPro
ENST00000531105.5:c.116-2094_116-2092dup	ENSP00000431292.1:n.116-2094_116-2092dup
ENST00000533178.5:c.757_759dup	ENSP00000436430.1:n.757_759dup
NM_001048171.1:c.1170_1172dup	NP_001041636.1:p.Pro391_Ser392insPro
NM_001048172.1:c.1131_1133dup	NP_001041637.1:p.Pro378_Ser379insPro
NM_001048173.1:c.1128_1130dup	NP_001041638.1:p.Pro377_Ser378insPro
NM_001048174.1:c.1128_1130dup	NP_001041639.1:p.Pro377_Ser378insPro
NM_001128425.1:c.1212_1214dup , LRG_220t1:c.1212_1214dup	NP_001121897.1:p.Pro405_Ser406insPro
NM_001293190.1:c.1173_1175dup	NP_001280119.1:p.Pro392_Ser393insPro
NM_001293191.1:c.1161_1163dup	NP_001280120.1:p.Pro388_Ser389insPro
NM_001293192.1:c.852_854dup	NP_001280121.1:p.Pro285_Ser286insPro
NM_001293195.1:c.1128_1130dup	NP_001280124.1:p.Pro377_Ser378insPro
NM_001293196.1:c.852_854dup	NP_001280125.1:p.Pro285_Ser286insPro
NM_012222.2:c.1203_1205dup	NP_036354.1:p.Pro402_Ser403insPro
XM_011541497.1:c.1188_1190dup	XP_011539799.1:p.Pro397_Ser398insPro
XM_011541498.1:c.1170_1172dup	XP_011539800.1:p.Pro391_Ser392insPro
XM_011541499.1:c.1170_1172dup	XP_011539801.1:p.Pro391_Ser392insPro
XM_011541500.1:c.1170_1172dup	XP_011539802.1:p.Pro391_Ser392insPro
XM_011541501.1:c.1170_1172dup	XP_011539803.1:p.Pro391_Ser392insPro
XM_011541502.1:c.1170_1172dup	XP_011539804.1:p.Pro391_Ser392insPro
XM_011541503.1:c.1170_1172dup	XP_011539805.1:p.Pro391_Ser392insPro
XM_011541504.1:c.1161_1163dup	XP_011539806.1:p.Pro388_Ser389insPro
XM_011541505.1:c.750_752dup	XP_011539807.1:p.Pro251_Ser252insPro
XM_011541506.1:c.750_752dup	XP_011539808.1:p.Pro251_Ser252insPro
XM_011541507.1:c.741_743dup	XP_011539809.1:p.Pro248_Ser249insPro
XM_011541508.1:c.756_758dup	XP_011539810.1:p.Pro253_Ser254insPro
XR_946658.1:n.1259_1261dup
NM_001350650.1:c.783_785dup	NP_001337579.1:p.Pro262_Ser263insPro
NM_001350651.1:c.783_785dup	NP_001337580.1:p.Pro262_Ser263insPro
NR_146882.1:n.1386_1388dup
NR_146883.1:n.1200_1202dup
XM_011541497.3:c.1188_1190dup	XP_011539799.1:p.Pro397_Ser398insPro
XM_011541500.3:c.1170_1172dup	XP_011539802.1:p.Pro391_Ser392insPro
XM_011541501.2:c.1170_1172dup	XP_011539803.1:p.Pro391_Ser392insPro
XM_011541502.2:c.1170_1172dup	XP_011539804.1:p.Pro391_Ser392insPro
XM_011541503.2:c.1170_1172dup	XP_011539805.1:p.Pro391_Ser392insPro
XM_011541504.2:c.1161_1163dup	XP_011539806.1:p.Pro388_Ser389insPro
XM_011541505.2:c.750_752dup	XP_011539807.1:p.Pro251_Ser252insPro
XM_011541506.2:c.750_752dup	XP_011539808.1:p.Pro251_Ser252insPro
XM_017001331.1:c.1170_1172dup	XP_016856820.1:p.Pro391_Ser392insPro
XM_017001332.1:c.1170_1172dup	XP_016856821.1:p.Pro391_Ser392insPro
XM_017001333.1:c.1170_1172dup	XP_016856822.1:p.Pro391_Ser392insPro
XM_017001334.1:c.1131_1133dup	XP_016856823.1:p.Pro378_Ser379insPro
XM_017001335.1:c.852_854dup	XP_016856824.1:p.Pro285_Ser286insPro
XM_017001336.1:c.783_785dup	XP_016856825.1:p.Pro262_Ser263insPro
XM_017001337.1:c.783_785dup	XP_016856826.1:p.Pro262_Ser263insPro
XM_024447244.1:c.783_785dup	XP_024303012.1:p.Pro262_Ser263insPro
XM_024447245.1:c.783_785dup	XP_024303013.1:p.Pro262_Ser263insPro
XM_024447248.1:c.741_743dup	XP_024303016.1:p.Pro248_Ser249insPro
XM_024447249.1:c.612_614dup	XP_024303017.1:p.Pro205_Ser206insPro
XM_024447250.1:c.612_614dup	XP_024303018.1:p.Pro205_Ser206insPro
XM_024447251.1:c.612_614dup	XP_024303019.1:p.Pro205_Ser206insPro
XR_001737190.1:n.1173_1175dup
XR_001737192.1:n.985_987dup
XR_002956643.1:n.1165_1167dup
XR_002956644.1:n.1700_1702dup
XR_946658.2:n.1273_1275dup
NM_001048171.2:c.1128_1130dup	NP_001041636.2:p.Pro377_Ser378insPro
NM_001128425.2:c.1212_1214dup MANE Plus Clinical	NP_001121897.1:p.Pro405_Ser406insPro
NM_001048172.2:c.1131_1133dup	NP_001041637.1:p.Pro378_Ser379insPro
NM_001048173.2:c.1128_1130dup	NP_001041638.1:p.Pro377_Ser378insPro
NM_001048174.2:c.1128_1130dup MANE Select	NP_001041639.1:p.Pro377_Ser378insPro
NM_001293190.2:c.1173_1175dup	NP_001280119.1:p.Pro392_Ser393insPro
NM_001293191.2:c.1161_1163dup	NP_001280120.1:p.Pro388_Ser389insPro
NM_001293192.2:c.852_854dup	NP_001280121.1:p.Pro285_Ser286insPro
NM_001293195.2:c.1128_1130dup	NP_001280124.1:p.Pro377_Ser378insPro
NM_001293196.2:c.852_854dup	NP_001280125.1:p.Pro285_Ser286insPro
NM_001350650.2:c.783_785dup	NP_001337579.1:p.Pro262_Ser263insPro
NM_001350651.2:c.783_785dup	NP_001337580.1:p.Pro262_Ser263insPro
NM_012222.3:c.1203_1205dup	NP_036354.1:p.Pro402_Ser403insPro
NR_146882.2:n.1356_1358dup
NR_146883.2:n.1205_1207dup