Canonical Allele Identifier: CA658656928

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 483905
• ClinVar RCV Id: RCV000568953
• dbSNP Id: rs1553128712
• MyVariant Identifiers: chr1:g.45798434del (hg19) ; chr1:g.45332762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332763del , CM000663.2:g.45332763del	GRCh38
NC_000001.10:g.45798435del , CM000663.1:g.45798435del	GRCh37
NC_000001.9:g.45571022del	NCBI36
NG_008189.1:g.12709del , LRG_220:g.12709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.108+1del
ENST00000435155.2:c.525+1del
ENST00000467459.6:c.492+1del
ENST00000483127.2:c.510+1del
ENST00000485271.6:c.492+1del
ENST00000529892.6:c.534+1del
ENST00000533178.6:c.116-75del	ENSP00000436430.2:n.116-75del
ENST00000672314.2:c.492+1del
ENST00000674679.2:c.*404+1del
ENST00000710952.2:c.576+1del
ENST00000672818.3:c.567+1del
ENST00000450313.6:c.502+1del
ENST00000456914.7:c.492+1del
ENST00000461495.6:c.*231+1del
ENST00000671856.1:n.438+1del
ENST00000671898.1:c.1080+1del
ENST00000672011.1:c.460+1del
ENST00000672314.1:c.492+1del
ENST00000672593.1:c.*306del	ENSP00000500455.1:n.*306del
ENST00000672764.1:c.451+1del
ENST00000672818.2:c.567+1del
ENST00000673134.1:c.*189+1del
ENST00000674679.1:c.520+1del
ENST00000354383.10:c.495+1del
ENST00000355498.6:c.492+1del
ENST00000372098.7:c.567+1del
ENST00000372104.5:c.492+1del
ENST00000372110.7:c.537+1del
ENST00000372115.7:c.534+1del
ENST00000412971.5:c.108+1del
ENST00000435155.1:c.525+1del
ENST00000448481.5:c.525+1del
ENST00000450313.5:c.576+1del
ENST00000456914.6:c.492+1del
ENST00000461495.5:c.*231+1del
ENST00000462388.5:n.183+1del
ENST00000467940.5:c.*415+1del
ENST00000470256.5:c.379+1del
ENST00000475516.5:c.*305+1del
ENST00000478796.5:n.479+1del
ENST00000479746.6:n.776del
ENST00000481139.5:n.966del
ENST00000481571.5:c.*305+1del
ENST00000483642.5:n.1007+1del
ENST00000485484.5:n.794del
ENST00000488731.6:c.187+1del
ENST00000492494.5:n.889+1del
ENST00000525160.5:c.*143+1del
ENST00000528013.6:c.534+1del
ENST00000529984.5:c.187+1del
ENST00000531105.5:c.115+1629del	ENSP00000431292.1:n.115+1629del
ENST00000533178.5:c.122-75del	ENSP00000436430.1:n.122-75del
NM_001048171.1:c.534+1del
NM_001048172.1:c.495+1del
NM_001048173.1:c.492+1del
NM_001048174.1:c.492+1del
NM_001128425.1:c.576+1del , LRG_220t1:c.576+1del
NM_001293190.1:c.537+1del
NM_001293191.1:c.525+1del
NM_001293192.1:c.216+1del
NM_001293195.1:c.492+1del
NM_001293196.1:c.216+1del
NM_012222.2:c.567+1del
XM_011541497.1:c.552+1del
XM_011541498.1:c.534+1del
XM_011541499.1:c.534+1del
XM_011541500.1:c.534+1del
XM_011541501.1:c.534+1del
XM_011541502.1:c.534+1del
XM_011541503.1:c.534+1del
XM_011541504.1:c.525+1del
XM_011541505.1:c.114+1del
XM_011541506.1:c.114+1del
XM_011541507.1:c.105+1del
XM_011541508.1:c.120+1del
XR_946658.1:n.623+1del
NM_001350650.1:c.147+1del
NM_001350651.1:c.147+1del
NR_146882.1:n.750+1del
NR_146883.1:n.564+1del
XM_011541497.3:c.552+1del
XM_011541500.3:c.534+1del
XM_011541501.2:c.534+1del
XM_011541502.2:c.534+1del
XM_011541503.2:c.534+1del
XM_011541504.2:c.525+1del
XM_011541505.2:c.114+1del
XM_011541506.2:c.114+1del
XM_017001331.1:c.534+1del
XM_017001332.1:c.534+1del
XM_017001333.1:c.534+1del
XM_017001334.1:c.495+1del
XM_017001335.1:c.216+1del
XM_017001336.1:c.147+1del
XM_017001337.1:c.147+1del
XM_024447244.1:c.147+1del
XM_024447245.1:c.147+1del
XM_024447248.1:c.105+1del
XM_024447249.1:c.-25+1del
XM_024447250.1:c.-25+1del
XM_024447251.1:c.-25+1del
XR_001737190.1:n.537+1del
XR_001737192.1:n.349+1del
XR_002956643.1:n.529+1del
XR_002956644.1:n.1064+1del
XR_946658.2:n.637+1del
NM_001048171.2:c.492+1del
NM_001128425.2:c.576+1del
NM_001048172.2:c.495+1del
NM_001048173.2:c.492+1del
NM_001048174.2:c.492+1del
NM_001293190.2:c.537+1del
NM_001293191.2:c.525+1del
NM_001293192.2:c.216+1del
NM_001293195.2:c.492+1del
NM_001293196.2:c.216+1del
NM_001350650.2:c.147+1del
NM_001350651.2:c.147+1del
NM_012222.3:c.567+1del
NR_146882.2:n.720+1del
NR_146883.2:n.569+1del