Canonical Allele Identifier: CA2739267677

Gene: CBS

Linked Data

• ClinVar Variation Id: 2844087
• ClinVar RCV Id: RCV003599632

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068508_43068509del , CM000683.2:g.43068508_43068509del	GRCh38
NG_008938.1:g.12424_12425del , LRG_777:g.12424_12425del

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.316+2_316+3del
ENST00000352178.9:c.316+2_316+3del
ENST00000359624.7:c.316+2_316+3del
ENST00000398158.5:c.316+2_316+3del
ENST00000398165.7:c.316+2_316+3del
ENST00000441030.5:c.316+2_316+3del
ENST00000465732.5:n.497_498del
ENST00000470912.5:n.576+2_576+3del
ENST00000488526.1:n.569_570del
NM_000071.2:c.316+2_316+3del , LRG_777t1:c.316+2_316+3del
NM_001178008.1:c.316+2_316+3del
NM_001178009.1:c.316+2_316+3del
XM_011529777.1:c.316+2_316+3del
XM_011529778.1:c.316+2_316+3del
XM_011529779.1:c.316+2_316+3del
XM_011529781.1:c.316+2_316+3del
XM_011529782.1:c.316+2_316+3del
NM_001178008.2:c.316+2_316+3del
NM_001178009.2:c.316+2_316+3del
NM_001320298.1:c.316+2_316+3del
XM_011529777.2:c.316+2_316+3del
XM_017028491.2:c.316+2_316+3del
XM_024452136.1:c.-451_-450del	XP_024307904.1:n.-451_-450del
XM_024452137.1:c.-451_-450del	XP_024307905.1:n.-451_-450del
XM_024452138.1:c.-729_-728del	XP_024307906.1:n.-729_-728del
XM_024452139.1:c.-729_-728del	XP_024307907.1:n.-729_-728del
XM_024452140.1:c.-729_-728del	XP_024307908.1:n.-729_-728del
XR_001754916.2:n.466+2_466+3del
XR_001754917.2:n.466+2_466+3del
XR_002958634.1:n.466+2_466+3del
NM_000071.3:c.316+2_316+3del
NM_001178009.3:c.316+2_316+3del
NM_001178008.3:c.316+2_316+3del
NM_001320298.2:c.316+2_316+3del