Canonical Allele Identifier: CA2579812515

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43072051_43072052delinsAG , CM000683.2:g.43072051_43072052delinsAG	GRCh38
NG_008938.1:g.8879_8880delinsCT , LRG_777:g.8879_8880delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.142_143delinsCT MANE Select	ENSP00000381231.4:p.Ala48Leu
ENST00000352178.9:c.142_143delinsCT	ENSP00000344460.5:p.Ala48Leu
ENST00000359624.7:c.142_143delinsCT	ENSP00000352643.3:p.Ala48Leu
ENST00000398158.5:c.142_143delinsCT	ENSP00000381225.1:p.Ala48Leu
ENST00000398165.7:c.142_143delinsCT	ENSP00000381231.3:p.Ala48Leu
ENST00000441030.5:c.142_143delinsCT	ENSP00000388235.1:p.Ala48Leu
ENST00000465732.5:n.321_322delinsCT
ENST00000470912.5:n.402_403delinsCT
ENST00000488526.1:n.393_394delinsCT
NM_000071.2:c.142_143delinsCT , LRG_777t1:c.142_143delinsCT	NP_000062.1:p.Ala48Leu
NM_001178008.1:c.142_143delinsCT	NP_001171479.1:p.Ala48Leu
NM_001178009.1:c.142_143delinsCT	NP_001171480.1:p.Ala48Leu
XM_011529777.1:c.142_143delinsCT	XP_011528079.1:p.Ala48Leu
XM_011529778.1:c.142_143delinsCT	XP_011528080.1:p.Ala48Leu
XM_011529779.1:c.142_143delinsCT	XP_011528081.1:p.Ala48Leu
XM_011529781.1:c.142_143delinsCT	XP_011528083.1:p.Ala48Leu
XM_011529782.1:c.142_143delinsCT	XP_011528084.1:p.Ala48Leu
NM_001178008.2:c.142_143delinsCT	NP_001171479.1:p.Ala48Leu
NM_001178009.2:c.142_143delinsCT	NP_001171480.1:p.Ala48Leu
NM_001320298.1:c.142_143delinsCT	NP_001307227.1:p.Ala48Leu
XM_011529777.2:c.142_143delinsCT	XP_011528079.1:p.Ala48Leu
XM_017028491.2:c.142_143delinsCT	XP_016883980.1:p.Ala48Leu
XM_024452136.1:c.-627_-626delinsCT	XP_024307904.1:n.-627_-626delinsCT
XM_024452137.1:c.-627_-626delinsCT	XP_024307905.1:n.-627_-626delinsCT
XM_024452138.1:c.-905_-904delinsCT	XP_024307906.1:n.-905_-904delinsCT
XM_024452139.1:c.-905_-904delinsCT	XP_024307907.1:n.-905_-904delinsCT
XM_024452140.1:c.-905_-904delinsCT	XP_024307908.1:n.-905_-904delinsCT
XR_001754916.2:n.292_293delinsCT
XR_001754917.2:n.292_293delinsCT
XR_002958634.1:n.292_293delinsCT
NM_000071.3:c.142_143delinsCT MANE Select	NP_000062.1:p.Ala48Leu
NM_001178009.3:c.142_143delinsCT	NP_001171480.1:p.Ala48Leu
NM_001178008.3:c.142_143delinsCT	NP_001171479.1:p.Ala48Leu
NM_001320298.2:c.142_143delinsCT	NP_001307227.1:p.Ala48Leu