Canonical Allele Identifier: CA2740458848

Gene: IFT122 MBD4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129436831_129436836del , CM000665.2:g.129436831_129436836del	GRCh38
NC_000003.11:g.129155674_129155679del , CM000665.1:g.129155674_129155679del	GRCh37
NC_000003.10:g.130638364_130638369del	NCBI36
NG_023392.1:g.1707_1712del
NG_033106.1:g.8344_8349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000687461.1:n.288+3599_288+3604del (IFT122)
ENST00000693654.1:n.355+3599_355+3604del (IFT122)
ENST00000429544.7:c.808_813del (MBD4) MANE Select	ENSP00000394080.2:p.Lys270_Ala271del
ENST00000249910.5:c.808_813del (MBD4)	ENSP00000249910.1:p.Lys270_Ala271del
ENST00000393278.6:c.247+972_247+977del (MBD4)	ENSP00000376959.2:n.247+972_247+977del
ENST00000429544.6:c.808_813del (MBD4)	ENSP00000394080.2:p.Lys270_Ala271del
ENST00000503197.5:c.808_813del (MBD4)	ENSP00000424873.1:p.Lys270_Ala271del
ENST00000507208.1:c.808_813del (MBD4)	ENSP00000422327.1:p.Lys270_Ala271del
ENST00000509587.1:n.442+884_442+889del (MBD4)
ENST00000509828.1:c.104+2894_104+2899del (MBD4)	ENSP00000422690.1:n.104+2894_104+2899del
NM_001276270.1:c.808_813del (MBD4)	NP_001263199.1:p.Lys270_Ala271del
NM_001276271.1:c.808_813del (MBD4)	NP_001263200.1:p.Lys270_Ala271del
NM_001276272.1:c.808_813del (MBD4)	NP_001263201.1:p.Lys270_Ala271del
NM_001276273.1:c.247+972_247+977del (MBD4)	NP_001263202.1:n.247+972_247+977del
NM_003925.2:c.808_813del (MBD4)	NP_003916.1:p.Lys270_Ala271del
XM_011513267.1:c.808_813del (MBD4)	XP_011511569.1:p.Lys270_Ala271del
XM_011513268.1:c.16+884_16+889del (MBD4)	XP_011511570.1:n.16+884_16+889del
XM_024453810.1:c.808_813del (MBD4)	XP_024309578.1:p.Lys270_Ala271del
NM_001276270.2:c.808_813del (MBD4) MANE Select	NP_001263199.1:p.Lys270_Ala271del
NM_001276272.2:c.808_813del (MBD4)	NP_001263201.1:p.Lys270_Ala271del
NM_003925.3:c.808_813del (MBD4)	NP_003916.1:p.Lys270_Ala271del
NM_001276271.2:c.808_813del (MBD4)	NP_001263200.1:p.Lys270_Ala271del
NM_001276273.2:c.247+972_247+977del (MBD4)	NP_001263202.1:n.247+972_247+977del