Canonical Allele Identifier: CA2580099043

Gene: CBS

Linked Data

• ClinVar Variation Id: 1726208
• ClinVar RCV Id: RCV002307179

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068596_43068608del , CM000683.2:g.43068596_43068608del	GRCh38
NG_008938.1:g.12324_12336del , LRG_777:g.12324_12336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.218_230del MANE Select	ENSP00000381231.4:p.Ser73CysfsTer5
ENST00000352178.9:c.218_230del	ENSP00000344460.5:p.Ser73CysfsTer5
ENST00000359624.7:c.218_230del	ENSP00000352643.3:p.Ser73CysfsTer5
ENST00000398158.5:c.218_230del	ENSP00000381225.1:p.Ser73CysfsTer5
ENST00000398165.7:c.218_230del	ENSP00000381231.3:p.Ser73CysfsTer5
ENST00000441030.5:c.218_230del	ENSP00000388235.1:p.Ser73CysfsTer5
ENST00000465732.5:n.397_409del
ENST00000470912.5:n.478_490del
ENST00000488526.1:n.469_481del
NM_000071.2:c.218_230del , LRG_777t1:c.218_230del	NP_000062.1:p.Ser73CysfsTer5
NM_001178008.1:c.218_230del	NP_001171479.1:p.Ser73CysfsTer5
NM_001178009.1:c.218_230del	NP_001171480.1:p.Ser73CysfsTer5
XM_011529777.1:c.218_230del	XP_011528079.1:p.Ser73CysfsTer5
XM_011529778.1:c.218_230del	XP_011528080.1:p.Ser73CysfsTer5
XM_011529779.1:c.218_230del	XP_011528081.1:p.Ser73CysfsTer5
XM_011529781.1:c.218_230del	XP_011528083.1:p.Ser73CysfsTer5
XM_011529782.1:c.218_230del	XP_011528084.1:p.Ser73CysfsTer5
NM_001178008.2:c.218_230del	NP_001171479.1:p.Ser73CysfsTer5
NM_001178009.2:c.218_230del	NP_001171480.1:p.Ser73CysfsTer5
NM_001320298.1:c.218_230del	NP_001307227.1:p.Ser73CysfsTer5
XM_011529777.2:c.218_230del	XP_011528079.1:p.Ser73CysfsTer5
XM_017028491.2:c.218_230del	XP_016883980.1:p.Ser73CysfsTer5
XM_024452136.1:c.-551_-539del	XP_024307904.1:n.-551_-539del
XM_024452137.1:c.-551_-539del	XP_024307905.1:n.-551_-539del
XM_024452138.1:c.-829_-817del	XP_024307906.1:n.-829_-817del
XM_024452139.1:c.-829_-817del	XP_024307907.1:n.-829_-817del
XM_024452140.1:c.-829_-817del	XP_024307908.1:n.-829_-817del
XR_001754916.2:n.368_380del
XR_001754917.2:n.368_380del
XR_002958634.1:n.368_380del
NM_000071.3:c.218_230del MANE Select	NP_000062.1:p.Ser73CysfsTer5
NM_001178009.3:c.218_230del	NP_001171480.1:p.Ser73CysfsTer5
NM_001178008.3:c.218_230del	NP_001171479.1:p.Ser73CysfsTer5
NM_001320298.2:c.218_230del	NP_001307227.1:p.Ser73CysfsTer5