Canonical Allele Identifier: CA2739278108

Gene: MUTYH TOE1

Linked Data

• ClinVar Variation Id: 2865447
• ClinVar RCV Id: RCV003614950

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45340215_45340241dup , CM000663.2:g.45340215_45340241dup	GRCh38
NC_000001.10:g.45805887_45805913dup , CM000663.1:g.45805887_45805913dup	GRCh37
NC_000001.9:g.45578474_45578500dup	NCBI36
NG_008189.1:g.5230_5256dup , LRG_220:g.5230_5256dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.14_36+4dup (MUTYH)
ENST00000529892.6:c.14_36+4dup (MUTYH)
ENST00000710952.2:c.14_36+4dup (MUTYH)
ENST00000672818.3:c.14_36+4dup (MUTYH)
ENST00000372090.6:c.-38_-12dup (TOE1) MANE Select	ENSP00000361162.5:n.-38_-12dup
ENST00000450313.6:c.14_36+4dup (MUTYH)
ENST00000461495.6:c.14_36+4dup (MUTYH)
ENST00000671898.1:c.541-5730_541-5704dup	ENSP00000499896.1:n.541-5730_541-5704dup
ENST00000672011.1:c.14_36+4dup (MUTYH)
ENST00000672818.2:c.14_36+4dup (MUTYH)
ENST00000372090.5:c.-38_-12dup (TOE1)	ENSP00000361162.5:n.-38_-12dup
ENST00000372098.7:c.14_36+4dup (MUTYH)
ENST00000372110.7:c.14_36+4dup (MUTYH)
ENST00000372115.7:c.14_36+4dup (MUTYH)
ENST00000412971.5:c.14_36+4dup (MUTYH)
ENST00000450313.5:c.14_36+4dup (MUTYH)
ENST00000461495.5:c.14_36+4dup (MUTYH)
ENST00000462387.5:n.192_214+4dup (MUTYH)
ENST00000467940.5:c.14_40dup (MUTYH)	ENSP00000436478.1:p.Val13_Arg14insLeuSerArgLeuSerArgLeuTrpVal...
ENST00000471337.5:n.41_67dup (TOE1)
ENST00000476789.5:n.192_214+4dup (MUTYH)
ENST00000477731.5:n.164_190dup (TOE1)
ENST00000481139.5:n.175_197+4dup (MUTYH)
ENST00000481571.5:c.14_36+4dup (MUTYH)
ENST00000483642.5:n.157_175+8dup (MUTYH)
ENST00000525160.5:c.14_36+4dup (MUTYH)
ENST00000529984.5:c.-29_-7+4dup (MUTYH)
NM_001048171.1:c.14_36+4dup (MUTYH)
NM_001128425.1:c.14_36+4dup , LRG_220t1:c.14_36+4dup (MUTYH)
NM_001293190.1:c.14_36+4dup (MUTYH)
NM_001293192.1:c.-241_-219+4dup (MUTYH)
NM_012222.2:c.14_36+4dup (MUTYH)
NM_025077.3:c.-38_-12dup (TOE1)	NP_079353.3:n.-38_-12dup
XM_005270412.2:c.-38_-12dup (TOE1)	XP_005270469.1:n.-38_-12dup
XM_011541503.1:c.14_36+4dup (MUTYH)
XM_011541505.1:c.-102_-80+4dup (MUTYH)
XR_246230.2:n.240_266dup (TOE1)
XR_426587.2:n.42_68dup (TOE1)
XR_946532.1:n.42_68dup (TOE1)
XR_946658.1:n.61_83+4dup (MUTYH)
NM_001350650.1:c.-300_-278+4dup (MUTYH)
NM_001350651.1:c.-236_-214+4dup (MUTYH)
NR_146882.1:n.230_252+4dup (MUTYH)
XM_005270412.4:c.-38_-12dup (TOE1)	XP_005270469.1:n.-38_-12dup
XM_005270413.5:c.-414_-388dup (TOE1)	XP_005270470.1:n.-414_-388dup
XM_011540569.3:c.-322_-296dup (TOE1)	XP_011538871.1:n.-322_-296dup
XM_011541503.2:c.14_36+4dup (MUTYH)
XM_011541505.2:c.-102_-80+4dup (MUTYH)
XM_017001331.1:c.-45_-19dup (MUTYH)	XP_016856820.1:n.-45_-19dup
XM_017001332.1:c.-25_-7+8dup (MUTYH)
XM_017001335.1:c.-257_-231dup (MUTYH)	XP_016856824.1:n.-257_-231dup
XM_017001336.1:c.-333_-311+4dup (MUTYH)
XM_024447244.1:c.-342_-320+4dup (MUTYH)
XM_024447248.1:c.-300_-278+4dup (MUTYH)
XM_024447249.1:c.-792_-774+8dup (MUTYH)
XM_024447250.1:c.-815_-789dup (MUTYH)	XP_024303018.1:n.-815_-789dup
XM_024452837.1:c.-414_-388dup (TOE1)	XP_024308605.1:n.-414_-388dup
XR_001736951.2:n.150_176dup (TOE1)
XR_001737190.1:n.81_103+4dup (MUTYH)
XR_002956643.1:n.189_211+4dup (MUTYH)
XR_002956644.1:n.207_229+4dup (MUTYH)
XR_002959287.1:n.465_491dup (TOE1)
XR_246230.4:n.150_176dup (TOE1)
XR_426587.4:n.42_68dup (TOE1)
XR_946532.3:n.42_68dup (TOE1)
XR_946658.2:n.75_97+4dup (MUTYH)
NM_025077.4:c.-38_-12dup (TOE1) MANE Select	NP_079353.3:n.-38_-12dup
NM_001048171.2:c.-29_-7+4dup (MUTYH)
NM_001128425.2:c.14_36+4dup (MUTYH)
NM_001293190.2:c.14_36+4dup (MUTYH)
NM_001293192.2:c.-241_-219+4dup (MUTYH)
NM_001350650.2:c.-300_-278+4dup (MUTYH)
NM_001350651.2:c.-236_-214+4dup (MUTYH)
NM_012222.3:c.14_36+4dup (MUTYH)
NR_146882.2:n.200_222+4dup (MUTYH)