Canonical Allele Identifier: CA2695201462

Gene: CBS

Linked Data

• ClinVar Variation Id: 2680410
• ClinVar RCV Id: RCV003460347

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43065195_43065203del , CM000683.2:g.43065195_43065203del	GRCh38
NG_008938.1:g.15728_15736del , LRG_777:g.15728_15736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.736_736+8del
ENST00000352178.9:c.736_736+8del
ENST00000359624.7:c.736_736+8del
ENST00000398158.5:c.736_736+8del
ENST00000398165.7:c.736_736+8del
ENST00000461686.5:n.1047_1047+8del
NM_000071.2:c.736_736+8del , LRG_777t1:c.736_736+8del
NM_001178008.1:c.736_736+8del
NM_001178009.1:c.736_736+8del
XM_011529773.1:c.787_787+8del
XM_011529774.1:c.787_787+8del
XM_011529775.1:c.787_787+8del
XM_011529776.1:c.787_787+8del
XM_011529777.1:c.736_736+8del
XM_011529778.1:c.736_736+8del
XM_011529779.1:c.736_736+8del
XM_011529781.1:c.736_736+8del
XM_011529782.1:c.736_736+8del
XM_011529783.1:c.421_421+8del
XM_011529784.1:c.421_421+8del
NM_001178008.2:c.736_736+8del
NM_001178009.2:c.736_736+8del
NM_001320298.1:c.736_736+8del
NM_001321072.1:c.421_421+8del
XM_011529774.2:c.787_787+8del
XM_011529777.2:c.736_736+8del
XM_011529783.2:c.421_421+8del
XM_017028491.2:c.736_736+8del
XM_024452136.1:c.787_787+8del
XM_024452137.1:c.787_787+8del
XM_024452138.1:c.421_421+8del
XM_024452139.1:c.421_421+8del
XM_024452140.1:c.421_421+8del
XR_001754915.1:n.1107_1107+8del
XR_001754916.2:n.886_886+8del
XR_001754917.2:n.886_886+8del
XR_002958634.1:n.886_886+8del
NM_000071.3:c.736_736+8del
NM_001178009.3:c.736_736+8del
NM_001178008.3:c.736_736+8del
NM_001320298.2:c.736_736+8del