Canonical Allele Identifier: CA736160869
Gene: MUTYH HGNC NCBI

Linked Data

dbSNP Id: rs1285838167
gnomAD v3: 1-45338293-CCTCA-C
gnomAD v4: 1-45338293-CCTCA-C
MyVariant Identifiers: chr1:g.45803966_45803969del (hg19) chr1:g.45338294_45338297del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45338296_45338299del , CM000663.2:g.45338296_45338299del GRCh38
NC_000001.10:g.45803968_45803971del , CM000663.1:g.45803968_45803971del GRCh37
NC_000001.9:g.45576555_45576558del NCBI36
NG_008189.1:g.7174_7177del , LRG_220:g.7174_7177del

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.36+1922_36+1925del ENSP00000410263.2:n.36+1922_36+1925del
ENST00000435155.2:c.-7+1679_-7+1682del ENSP00000403655.2:n.-7+1679_-7+1682del
ENST00000467459.6:c.-7+1602_-7+1605del ENSP00000435889.2:n.-7+1602_-7+1605del
ENST00000483127.2:c.-100_-97del ENSP00000436469.2:n.-100_-97del
ENST00000485271.6:c.-7+1679_-7+1682del ENSP00000431264.2:n.-7+1679_-7+1682del
ENST00000529892.6:c.36+1922_36+1925del ENSP00000432528.2:n.36+1922_36+1925del
ENST00000710952.2:c.36+1922_36+1925del MANE Plus Clinical ENSP00000518552.2:n.36+1922_36+1925del
ENST00000672818.3:c.36+1922_36+1925del ENSP00000500891.1:n.36+1922_36+1925del
ENST00000450313.6:c.36+1922_36+1925del ENSP00000408176.2:n.36+1922_36+1925del
ENST00000456914.7:c.-7+1602_-7+1605del MANE Select ENSP00000407590.2:n.-7+1602_-7+1605del
ENST00000461495.6:c.36+1922_36+1925del ENSP00000437166.1:n.36+1922_36+1925del
ENST00000671856.1:n.14+1922_14+1925del
ENST00000671898.1:c.541-3786_541-3783del ENSP00000499896.1:n.541-3786_541-3783del
ENST00000672011.1:c.36+1922_36+1925del ENSP00000500418.1:n.36+1922_36+1925del
ENST00000672593.1:c.-7+210_-7+213del ENSP00000500455.1:n.-7+210_-7+213del
ENST00000672764.1:c.-7+1679_-7+1682del ENSP00000500886.1:n.-7+1679_-7+1682del
ENST00000672818.2:c.36+1922_36+1925del ENSP00000500891.1:n.36+1922_36+1925del
ENST00000673134.1:c.-7+1679_-7+1682del ENSP00000500526.1:n.-7+1679_-7+1682del
ENST00000354383.10:c.-7+1679_-7+1682del ENSP00000346354.6:n.-7+1679_-7+1682del
ENST00000355498.6:c.-7+1679_-7+1682del ENSP00000347685.2:n.-7+1679_-7+1682del
ENST00000372098.7:c.36+1922_36+1925del ENSP00000361170.3:n.36+1922_36+1925del
ENST00000372104.5:c.-7+210_-7+213del ENSP00000361176.1:n.-7+210_-7+213del
ENST00000372110.7:c.36+1922_36+1925del ENSP00000361182.3:n.36+1922_36+1925del
ENST00000372115.7:c.36+1922_36+1925del ENSP00000361187.3:n.36+1922_36+1925del
ENST00000412971.5:c.36+1922_36+1925del ENSP00000410263.1:n.36+1922_36+1925del
ENST00000435155.1:c.-7+1679_-7+1682del ENSP00000403655.1:n.-7+1679_-7+1682del
ENST00000448481.5:c.-7+1602_-7+1605del ENSP00000409718.1:n.-7+1602_-7+1605del
ENST00000450313.5:c.36+1922_36+1925del ENSP00000408176.1:n.36+1922_36+1925del
ENST00000456914.6:c.-7+1602_-7+1605del ENSP00000407590.2:n.-7+1602_-7+1605del
ENST00000461495.5:c.36+1922_36+1925del ENSP00000437166.1:n.36+1922_36+1925del
ENST00000462387.5:n.214+1922_214+1925del
ENST00000467940.5:c.52+1906_52+1909del ENSP00000436478.1:n.52+1906_52+1909del
ENST00000470256.5:c.-7+1679_-7+1682del ENSP00000434985.1:n.-7+1679_-7+1682del
ENST00000474703.1:n.116+1679_116+1682del
ENST00000475516.5:c.-7+1679_-7+1682del ENSP00000433843.1:n.-7+1679_-7+1682del
ENST00000476789.5:n.214+1922_214+1925del
ENST00000479746.6:n.57+1602_57+1605del
ENST00000481139.5:n.197+1922_197+1925del
ENST00000481571.5:c.36+1922_36+1925del ENSP00000436597.1:n.36+1922_36+1925del
ENST00000483127.1:c.-100_-97del ENSP00000436469.1:n.-100_-97del
ENST00000483642.5:n.175+1926_175+1929del
ENST00000485484.5:n.44+1602_44+1605del
ENST00000488731.6:c.-7+1679_-7+1682del ENSP00000432330.1:n.-7+1679_-7+1682del
ENST00000492494.5:n.57+1602_57+1605del
ENST00000525160.5:c.36+1922_36+1925del ENSP00000431568.1:n.36+1922_36+1925del
ENST00000528013.6:c.-7+1602_-7+1605del ENSP00000433130.2:n.-7+1602_-7+1605del
ENST00000529984.5:c.-7+1922_-7+1925del ENSP00000437093.1:n.-7+1922_-7+1925del
ENST00000531105.5:c.-7+1679_-7+1682del ENSP00000431292.1:n.-7+1679_-7+1682del
ENST00000534453.1:n.260+1679_260+1682del
NM_001048171.1:c.36+1922_36+1925del NP_001041636.1:n.36+1922_36+1925del
NM_001048172.1:c.-7+1679_-7+1682del NP_001041637.1:n.-7+1679_-7+1682del
NM_001048173.1:c.-7+1679_-7+1682del NP_001041638.1:n.-7+1679_-7+1682del
NM_001048174.1:c.-7+1602_-7+1605del NP_001041639.1:n.-7+1602_-7+1605del
NM_001128425.1:c.36+1922_36+1925del , LRG_220t1:c.36+1922_36+1925del NP_001121897.1:n.36+1922_36+1925del
NM_001293190.1:c.36+1922_36+1925del NP_001280119.1:n.36+1922_36+1925del
NM_001293191.1:c.-7+1602_-7+1605del NP_001280120.1:n.-7+1602_-7+1605del
NM_001293192.1:c.-219+1922_-219+1925del NP_001280121.1:n.-219+1922_-219+1925del
NM_001293195.1:c.-7+210_-7+213del NP_001280124.1:n.-7+210_-7+213del
NM_001293196.1:c.-219+1679_-219+1682del NP_001280125.1:n.-219+1679_-219+1682del
NM_012222.2:c.36+1922_36+1925del NP_036354.1:n.36+1922_36+1925del
XM_011541497.1:c.-100_-97del XP_011539799.1:n.-100_-97del
XM_011541498.1:c.-7+1679_-7+1682del XP_011539800.1:n.-7+1679_-7+1682del
XM_011541499.1:c.-7+1602_-7+1605del XP_011539801.1:n.-7+1602_-7+1605del
XM_011541500.1:c.-7+210_-7+213del XP_011539802.1:n.-7+210_-7+213del
XM_011541501.1:c.-7+210_-7+213del XP_011539803.1:n.-7+210_-7+213del
XM_011541502.1:c.-7+1365_-7+1368del XP_011539804.1:n.-7+1365_-7+1368del
XM_011541503.1:c.36+1922_36+1925del XP_011539805.1:n.36+1922_36+1925del
XM_011541504.1:c.-7+1679_-7+1682del XP_011539806.1:n.-7+1679_-7+1682del
XM_011541505.1:c.-80+1922_-80+1925del XP_011539807.1:n.-80+1922_-80+1925del
XM_011541506.1:c.-80+1679_-80+1682del XP_011539808.1:n.-80+1679_-80+1682del
XR_946658.1:n.83+1922_83+1925del
NM_001350650.1:c.-278+1922_-278+1925del NP_001337579.1:n.-278+1922_-278+1925del
NM_001350651.1:c.-214+1922_-214+1925del NP_001337580.1:n.-214+1922_-214+1925del
NR_146882.1:n.252+1922_252+1925del
NR_146883.1:n.140+1679_140+1682del
XM_011541497.3:c.-100_-97del XP_011539799.1:n.-100_-97del
XM_011541500.3:c.-7+210_-7+213del XP_011539802.1:n.-7+210_-7+213del
XM_011541501.2:c.-7+210_-7+213del XP_011539803.1:n.-7+210_-7+213del
XM_011541502.2:c.-7+1365_-7+1368del XP_011539804.1:n.-7+1365_-7+1368del
XM_011541503.2:c.36+1922_36+1925del XP_011539805.1:n.36+1922_36+1925del
XM_011541504.2:c.-7+1679_-7+1682del XP_011539806.1:n.-7+1679_-7+1682del
XM_011541505.2:c.-80+1922_-80+1925del XP_011539807.1:n.-80+1922_-80+1925del
XM_011541506.2:c.-80+1679_-80+1682del XP_011539808.1:n.-80+1679_-80+1682del
XM_017001331.1:c.-7+1906_-7+1909del XP_016856820.1:n.-7+1906_-7+1909del
XM_017001332.1:c.-7+1926_-7+1929del XP_016856821.1:n.-7+1926_-7+1929del
XM_017001334.1:c.-7+1602_-7+1605del XP_016856823.1:n.-7+1602_-7+1605del
XM_017001335.1:c.-219+1906_-219+1909del XP_016856824.1:n.-219+1906_-219+1909del
XM_017001336.1:c.-311+1922_-311+1925del XP_016856825.1:n.-311+1922_-311+1925del
XM_017001337.1:c.-311+1679_-311+1682del XP_016856826.1:n.-311+1679_-311+1682del
XM_024447244.1:c.-320+1922_-320+1925del XP_024303012.1:n.-320+1922_-320+1925del
XM_024447245.1:c.-281+1679_-281+1682del XP_024303013.1:n.-281+1679_-281+1682del
XM_024447248.1:c.-278+1922_-278+1925del XP_024303016.1:n.-278+1922_-278+1925del
XM_024447249.1:c.-774+1926_-774+1929del XP_024303017.1:n.-774+1926_-774+1929del
XM_024447250.1:c.-777+1906_-777+1909del XP_024303018.1:n.-777+1906_-777+1909del
XM_024447251.1:c.-468+1679_-468+1682del XP_024303019.1:n.-468+1679_-468+1682del
XR_001737190.1:n.103+1922_103+1925del
XR_001737192.1:n.31+1679_31+1682del
XR_002956643.1:n.211+1922_211+1925del
XR_002956644.1:n.229+1922_229+1925del
XR_946658.2:n.97+1922_97+1925del
NM_001048171.2:c.-7+1922_-7+1925del NP_001041636.2:n.-7+1922_-7+1925del
NM_001128425.2:c.36+1922_36+1925del MANE Plus Clinical NP_001121897.1:n.36+1922_36+1925del
NM_001048172.2:c.-7+1679_-7+1682del NP_001041637.1:n.-7+1679_-7+1682del
NM_001048173.2:c.-7+1679_-7+1682del NP_001041638.1:n.-7+1679_-7+1682del
NM_001048174.2:c.-7+1602_-7+1605del MANE Select NP_001041639.1:n.-7+1602_-7+1605del
NM_001293190.2:c.36+1922_36+1925del NP_001280119.1:n.36+1922_36+1925del
NM_001293191.2:c.-7+1602_-7+1605del NP_001280120.1:n.-7+1602_-7+1605del
NM_001293192.2:c.-219+1922_-219+1925del NP_001280121.1:n.-219+1922_-219+1925del
NM_001293195.2:c.-7+210_-7+213del NP_001280124.1:n.-7+210_-7+213del
NM_001293196.2:c.-219+1679_-219+1682del NP_001280125.1:n.-219+1679_-219+1682del
NM_001350650.2:c.-278+1922_-278+1925del NP_001337579.1:n.-278+1922_-278+1925del
NM_001350651.2:c.-214+1922_-214+1925del NP_001337580.1:n.-214+1922_-214+1925del
NM_012222.3:c.36+1922_36+1925del NP_036354.1:n.36+1922_36+1925del
NR_146882.2:n.222+1922_222+1925del
NR_146883.2:n.145+1679_145+1682del
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