Canonical Allele Identifier: CA2645383583

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340558_45340560del , CM000663.2:g.45340558_45340560del GRCh38
NC_000001.10:g.45806230_45806232del , CM000663.1:g.45806230_45806232del GRCh37
NC_000001.9:g.45578817_45578819del NCBI36
NG_008189.1:g.4913_4915del , LRG_220:g.4913_4915del

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.52+254_52+256del (TOE1) MANE Select ENSP00000361162.5:n.52+254_52+256del
ENST00000671898.1:c.541-6047_541-6045del ENSP00000499896.1:n.541-6047_541-6045del
ENST00000672011.1:c.-304_-302del (MUTYH) ENSP00000500418.1:n.-304_-302del
ENST00000372090.5:c.52+254_52+256del (TOE1) ENSP00000361162.5:n.52+254_52+256del
ENST00000471337.5:n.130+254_130+256del (TOE1)
ENST00000477731.5:n.271+236_271+238del (TOE1)
ENST00000495703.5:n.322+16_322+18del (TOE1)
NM_025077.3:c.52+254_52+256del (TOE1) NP_079353.3:n.52+254_52+256del
XM_005270412.2:c.70+236_70+238del (TOE1) XP_005270469.1:n.70+236_70+238del
XM_005270413.3:c.-87+16_-87+18del (TOE1) XP_005270470.1:n.-87+16_-87+18del
XM_011540569.1:c.-233+254_-233+256del (TOE1) XP_011538871.1:n.-233+254_-233+256del
XR_246230.2:n.329+254_329+256del (TOE1)
XR_426587.2:n.149+236_149+238del (TOE1)
XR_946532.1:n.149+236_149+238del (TOE1)
XM_005270412.4:c.70+236_70+238del (TOE1) XP_005270469.1:n.70+236_70+238del
XM_005270413.5:c.-87+16_-87+18del (TOE1) XP_005270470.1:n.-87+16_-87+18del
XM_011540569.3:c.-233+254_-233+256del (TOE1) XP_011538871.1:n.-233+254_-233+256del
XM_024452837.1:c.-87+16_-87+18del (TOE1) XP_024308605.1:n.-87+16_-87+18del
XR_001736951.2:n.239+254_239+256del (TOE1)
XR_002959287.1:n.554+254_554+256del (TOE1)
XR_246230.4:n.239+254_239+256del (TOE1)
XR_426587.4:n.149+236_149+238del (TOE1)
XR_946532.3:n.149+236_149+238del (TOE1)
NM_025077.4:c.52+254_52+256del (TOE1) MANE Select NP_079353.3:n.52+254_52+256del