Canonical Allele Identifier: CA736163099
Gene: TOE1 HGNC NCBI
MUTYH HGNC NCBI

Linked Data

dbSNP Id: rs1183112961
gnomAD v4: 1-45340675-TGGCGCTGG-T
MyVariant Identifiers: chr1:g.45806348_45806355del (hg19) chr1:g.45340676_45340683del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340679_45340686del , CM000663.2:g.45340679_45340686del GRCh38
NC_000001.10:g.45806351_45806358del , CM000663.1:g.45806351_45806358del GRCh37
NC_000001.9:g.45578938_45578945del NCBI36
NG_008189.1:g.4788_4795del , LRG_220:g.4788_4795del

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.52+375_52+382del (TOE1) MANE Select ENSP00000361162.5:n.52+375_52+382del
ENST00000671898.1:c.541-6172_541-6165del ENSP00000499896.1:n.541-6172_541-6165del
ENST00000672011.1:c.-429_-422del (MUTYH) ENSP00000500418.1:n.-429_-422del
ENST00000372090.5:c.52+375_52+382del (TOE1) ENSP00000361162.5:n.52+375_52+382del
ENST00000471337.5:n.130+375_130+382del (TOE1)
ENST00000477731.5:n.271+357_271+364del (TOE1)
ENST00000495703.5:n.322+137_322+144del (TOE1)
NM_025077.3:c.52+375_52+382del (TOE1) NP_079353.3:n.52+375_52+382del
XM_005270412.2:c.70+357_70+364del (TOE1) XP_005270469.1:n.70+357_70+364del
XM_005270413.3:c.-87+137_-87+144del (TOE1) XP_005270470.1:n.-87+137_-87+144del
XM_011540569.1:c.-233+375_-233+382del (TOE1) XP_011538871.1:n.-233+375_-233+382del
XR_246230.2:n.329+375_329+382del (TOE1)
XR_426587.2:n.149+357_149+364del (TOE1)
XR_946532.1:n.149+357_149+364del (TOE1)
XM_005270412.4:c.70+357_70+364del (TOE1) XP_005270469.1:n.70+357_70+364del
XM_005270413.5:c.-87+137_-87+144del (TOE1) XP_005270470.1:n.-87+137_-87+144del
XM_011540569.3:c.-233+375_-233+382del (TOE1) XP_011538871.1:n.-233+375_-233+382del
XM_024452837.1:c.-87+137_-87+144del (TOE1) XP_024308605.1:n.-87+137_-87+144del
XR_001736951.2:n.239+375_239+382del (TOE1)
XR_002959287.1:n.554+375_554+382del (TOE1)
XR_246230.4:n.239+375_239+382del (TOE1)
XR_426587.4:n.149+357_149+364del (TOE1)
XR_946532.3:n.149+357_149+364del (TOE1)
NM_025077.4:c.52+375_52+382del (TOE1) MANE Select NP_079353.3:n.52+375_52+382del
Search 100 bp 5'
Search 100 bp 3'