Canonical Allele Identifier: CA546417548

Gene: IFT122 MBD4

Linked Data

• dbSNP Id: rs1559801135
• gnomAD v2: 3-129155836-ATCT-A
• gnomAD v4: 3-129436993-ATCT-A
• MyVariant Identifiers: chr3:g.129155837_129155839del (hg19) ; chr3:g.129436994_129436996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129436998_129437000del , CM000665.2:g.129436998_129437000del	GRCh38
NC_000003.11:g.129155841_129155843del , CM000665.1:g.129155841_129155843del	GRCh37
NC_000003.10:g.130638531_130638533del	NCBI36
NG_023392.1:g.1874_1876del
NG_033106.1:g.8184_8186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687461.1:n.288+3766_288+3768del (IFT122)
ENST00000693654.1:n.355+3766_355+3768del (IFT122)
ENST00000429544.7:c.648_650del (MBD4) MANE Select	ENSP00000394080.2:p.Glu216del
ENST00000249910.5:c.648_650del (MBD4)	ENSP00000249910.1:p.Glu216del
ENST00000393278.6:c.247+812_247+814del (MBD4)	ENSP00000376959.2:n.247+812_247+814del
ENST00000429544.6:c.648_650del (MBD4)	ENSP00000394080.2:p.Glu216del
ENST00000503197.5:c.648_650del (MBD4)	ENSP00000424873.1:p.Glu216del
ENST00000507208.1:c.648_650del (MBD4)	ENSP00000422327.1:p.Glu216del
ENST00000509587.1:n.442+724_442+726del (MBD4)
ENST00000509828.1:c.104+2734_104+2736del (MBD4)	ENSP00000422690.1:n.104+2734_104+2736del
NM_001276270.1:c.648_650del (MBD4)	NP_001263199.1:p.Glu216del
NM_001276271.1:c.648_650del (MBD4)	NP_001263200.1:p.Glu216del
NM_001276272.1:c.648_650del (MBD4)	NP_001263201.1:p.Glu216del
NM_001276273.1:c.247+812_247+814del (MBD4)	NP_001263202.1:n.247+812_247+814del
NM_003925.2:c.648_650del (MBD4)	NP_003916.1:p.Glu216del
XM_011513267.1:c.648_650del (MBD4)	XP_011511569.1:p.Glu216del
XM_011513268.1:c.16+724_16+726del (MBD4)	XP_011511570.1:n.16+724_16+726del
XM_024453810.1:c.648_650del (MBD4)	XP_024309578.1:p.Glu216del
NM_001276270.2:c.648_650del (MBD4) MANE Select	NP_001263199.1:p.Glu216del
NM_001276272.2:c.648_650del (MBD4)	NP_001263201.1:p.Glu216del
NM_003925.3:c.648_650del (MBD4)	NP_003916.1:p.Glu216del
NM_001276271.2:c.648_650del (MBD4)	NP_001263200.1:p.Glu216del
NM_001276273.2:c.247+812_247+814del (MBD4)	NP_001263202.1:n.247+812_247+814del