Canonical Allele Identifier: CA1401178787

Gene: IFT122 MBD4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129436724_129436728delinsTTTTC , CM000665.2:g.129436724_129436728delinsTTTTC	GRCh38
NC_000003.11:g.129155567_129155571delinsTTTTC , CM000665.1:g.129155567_129155571delinsTTTTC	GRCh37
NC_000003.10:g.130638257_130638261delinsTTTTC	NCBI36
NG_023392.1:g.1600_1604delinsTTTTC
NG_033106.1:g.8452_8456delinsGAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000687461.1:n.288+3492_288+3496delinsTTTTC (IFT122)
ENST00000693654.1:n.355+3492_355+3496delinsTTTTC (IFT122)
ENST00000429544.7:c.916_920delinsGAAAA (MBD4) MANE Select	ENSP00000394080.2:p.Glu306=
ENST00000249910.5:c.916_920delinsGAAAA (MBD4)	ENSP00000249910.1:p.Glu306=
ENST00000393278.6:c.247+1080_247+1084delinsGAAAA (MBD4)	ENSP00000376959.2:n.247+1080_247+1084deli...
ENST00000429544.6:c.916_920delinsGAAAA (MBD4)	ENSP00000394080.2:p.Glu306=
ENST00000503197.5:c.916_920delinsGAAAA (MBD4)	ENSP00000424873.1:p.Glu306=
ENST00000507208.1:c.916_920delinsGAAAA (MBD4)	ENSP00000422327.1:p.Glu306=
ENST00000509587.1:n.442+992_442+996delinsGAAAA (MBD4)
ENST00000509828.1:c.104+3002_104+3006delinsGAAAA (MBD4)	ENSP00000422690.1:n.104+3002_104+3006deli...
NM_001276270.1:c.916_920delinsGAAAA (MBD4)	NP_001263199.1:p.Glu306=
NM_001276271.1:c.916_920delinsGAAAA (MBD4)	NP_001263200.1:p.Glu306=
NM_001276272.1:c.916_920delinsGAAAA (MBD4)	NP_001263201.1:p.Glu306=
NM_001276273.1:c.247+1080_247+1084delinsGAAAA (MBD4)	NP_001263202.1:n.247+1080_247+1084delinsG...
NM_003925.2:c.916_920delinsGAAAA (MBD4)	NP_003916.1:p.Glu306=
XM_011513267.1:c.916_920delinsGAAAA (MBD4)	XP_011511569.1:p.Glu306=
XM_011513268.1:c.16+992_16+996delinsGAAAA (MBD4)	XP_011511570.1:n.16+992_16+996delinsGAAAA...
XM_024453810.1:c.916_920delinsGAAAA (MBD4)	XP_024309578.1:p.Glu306=
NM_001276270.2:c.916_920delinsGAAAA (MBD4) MANE Select	NP_001263199.1:p.Glu306=
NM_001276272.2:c.916_920delinsGAAAA (MBD4)	NP_001263201.1:p.Glu306=
NM_003925.3:c.916_920delinsGAAAA (MBD4)	NP_003916.1:p.Glu306=
NM_001276271.2:c.916_920delinsGAAAA (MBD4)	NP_001263200.1:p.Glu306=
NM_001276273.2:c.247+1080_247+1084delinsGAAAA (MBD4)	NP_001263202.1:n.247+1080_247+1084delinsG...