Canonical Allele Identifier: CA546417534

Gene: IFT122 MBD4

Linked Data

• dbSNP Id: rs1553721756
• gnomAD v2: 3-129155914-C-CT
• gnomAD v3: 3-129437071-C-CT
• gnomAD v4: 3-129437071-C-CT
• MyVariant Identifiers: chr3:g.129155914_129155915insT (hg19) ; chr3:g.129437071_129437072insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129437071_129437072insT , CM000665.2:g.129437071_129437072insT	GRCh38
NC_000003.11:g.129155914_129155915insT , CM000665.1:g.129155914_129155915insT	GRCh37
NC_000003.10:g.130638604_130638605insT	NCBI36
NG_023392.1:g.1947_1948insT
NG_033106.1:g.8108_8109insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687461.1:n.288+3839_288+3840insT (IFT122)
ENST00000693654.1:n.355+3839_355+3840insT (IFT122)
ENST00000429544.7:c.572_573insA (MBD4) MANE Select	ENSP00000394080.2:p.Pro192AlafsTer3
ENST00000249910.5:c.572_573insA (MBD4)	ENSP00000249910.1:p.Pro192AlafsTer3
ENST00000393278.6:c.247+736_247+737insA (MBD4)	ENSP00000376959.2:n.247+736_247+737insA
ENST00000429544.6:c.572_573insA (MBD4)	ENSP00000394080.2:p.Pro192AlafsTer3
ENST00000503197.5:c.572_573insA (MBD4)	ENSP00000424873.1:p.Pro192AlafsTer3
ENST00000505883.1:n.588_589insA (MBD4)
ENST00000507208.1:c.572_573insA (MBD4)	ENSP00000422327.1:p.Pro192AlafsTer3
ENST00000509587.1:n.442+648_442+649insA (MBD4)
ENST00000509828.1:c.104+2658_104+2659insA (MBD4)	ENSP00000422690.1:n.104+2658_104+2659insA
NM_001276270.1:c.572_573insA (MBD4)	NP_001263199.1:p.Pro192AlafsTer3
NM_001276271.1:c.572_573insA (MBD4)	NP_001263200.1:p.Pro192AlafsTer3
NM_001276272.1:c.572_573insA (MBD4)	NP_001263201.1:p.Pro192AlafsTer3
NM_001276273.1:c.247+736_247+737insA (MBD4)	NP_001263202.1:n.247+736_247+737insA
NM_003925.2:c.572_573insA (MBD4)	NP_003916.1:p.Pro192AlafsTer3
XM_011513267.1:c.572_573insA (MBD4)	XP_011511569.1:p.Pro192AlafsTer3
XM_011513268.1:c.16+648_16+649insA (MBD4)	XP_011511570.1:n.16+648_16+649insA
XM_024453810.1:c.572_573insA (MBD4)	XP_024309578.1:p.Pro192AlafsTer3
NM_001276270.2:c.572_573insA (MBD4) MANE Select	NP_001263199.1:p.Pro192AlafsTer3
NM_001276272.2:c.572_573insA (MBD4)	NP_001263201.1:p.Pro192AlafsTer3
NM_003925.3:c.572_573insA (MBD4)	NP_003916.1:p.Pro192AlafsTer3
NM_001276271.2:c.572_573insA (MBD4)	NP_001263200.1:p.Pro192AlafsTer3
NM_001276273.2:c.247+736_247+737insA (MBD4)	NP_001263202.1:n.247+736_247+737insA