Canonical Allele Identifier: CA2579803615
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43059225_43059226delinsTG , CM000683.2:g.43059225_43059226delinsTG GRCh38
NG_008938.1:g.21705_21706delinsCA , LRG_777:g.21705_21706delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1223_1223+1delinsCA
ENST00000352178.9:c.1223_1223+1delinsCA
ENST00000359624.7:c.1223_1223+1delinsCA
ENST00000398158.5:c.1223_1223+1delinsCA
ENST00000398165.7:c.1223_1223+1delinsCA
ENST00000430013.1:c.184_184+1delinsCA
ENST00000461686.5:n.1534_1534+1delinsCA
ENST00000462349.5:n.514_514+1delinsCA
ENST00000491776.1:n.158_158+1delinsCA
NM_000071.2:c.1223_1223+1delinsCA , LRG_777t1:c.1223_1223+1delinsCA
NM_001178008.1:c.1223_1223+1delinsCA
NM_001178009.1:c.1223_1223+1delinsCA
XM_011529773.1:c.1274_1274+1delinsCA
XM_011529774.1:c.1274_1274+1delinsCA
XM_011529775.1:c.1274_1274+1delinsCA
XM_011529776.1:c.1274_1274+1delinsCA
XM_011529777.1:c.1223_1223+1delinsCA
XM_011529778.1:c.1223_1223+1delinsCA
XM_011529779.1:c.1223_1223+1delinsCA
XM_011529781.1:c.1223_1223+1delinsCA
XM_011529782.1:c.1223_1223+1delinsCA
XM_011529783.1:c.908_908+1delinsCA
XM_011529784.1:c.908_908+1delinsCA
NM_001178008.2:c.1223_1223+1delinsCA
NM_001178009.2:c.1223_1223+1delinsCA
NM_001320298.1:c.1223_1223+1delinsCA
NM_001321072.1:c.908_908+1delinsCA
XM_011529774.2:c.1274_1274+1delinsCA
XM_011529777.2:c.1223_1223+1delinsCA
XM_011529783.2:c.908_908+1delinsCA
XM_017028491.2:c.1223_1223+1delinsCA
XM_024452136.1:c.1274_1274+1delinsCA
XM_024452137.1:c.1274_1274+1delinsCA
XM_024452138.1:c.908_908+1delinsCA
XM_024452139.1:c.908_908+1delinsCA
XM_024452140.1:c.908_908+1delinsCA
XR_001754915.1:n.1594_1594+1delinsCA
XR_001754916.2:n.1373_1373+1delinsCA
XR_001754917.2:n.1373_1373+1delinsCA
XR_002958634.1:n.2194_2194+1delinsCA
NM_000071.3:c.1223_1223+1delinsCA
NM_001178009.3:c.1223_1223+1delinsCA
NM_001178008.3:c.1223_1223+1delinsCA
NM_001320298.2:c.1223_1223+1delinsCA