Canonical Allele Identifier: CA2573157512

Gene: CBS

Linked Data

• ClinVar Variation Id: 1516091
• ClinVar RCV Id: RCV002023684
• dbSNP Id: rs2146427112

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43071979_43071986del , CM000683.2:g.43071979_43071986del	GRCh38
NG_008938.1:g.8947_8954del , LRG_777:g.8947_8954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.209+1_209+8del
ENST00000352178.9:c.209+1_209+8del
ENST00000359624.7:c.209+1_209+8del
ENST00000398158.5:c.209+1_209+8del
ENST00000398165.7:c.209+1_209+8del
ENST00000441030.5:c.209+1_209+8del
ENST00000465732.5:n.388+1_388+8del
ENST00000470912.5:n.469+1_469+8del
ENST00000488526.1:n.460+1_460+8del
NM_000071.2:c.209+1_209+8del , LRG_777t1:c.209+1_209+8del
NM_001178008.1:c.209+1_209+8del
NM_001178009.1:c.209+1_209+8del
XM_011529777.1:c.209+1_209+8del
XM_011529778.1:c.209+1_209+8del
XM_011529779.1:c.209+1_209+8del
XM_011529781.1:c.209+1_209+8del
XM_011529782.1:c.209+1_209+8del
NM_001178008.2:c.209+1_209+8del
NM_001178009.2:c.209+1_209+8del
NM_001320298.1:c.209+1_209+8del
XM_011529777.2:c.209+1_209+8del
XM_017028491.2:c.209+1_209+8del
XM_024452136.1:c.-560+1_-560+8del
XM_024452137.1:c.-560+1_-560+8del
XM_024452138.1:c.-838+1_-838+8del
XM_024452139.1:c.-838+1_-838+8del
XM_024452140.1:c.-838+1_-838+8del
XR_001754916.2:n.359+1_359+8del
XR_001754917.2:n.359+1_359+8del
XR_002958634.1:n.359+1_359+8del
NM_000071.3:c.209+1_209+8del
NM_001178009.3:c.209+1_209+8del
NM_001178008.3:c.209+1_209+8del
NM_001320298.2:c.209+1_209+8del