Canonical Allele Identifier: CA2579809219
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43058833_43058835delinsATG , CM000683.2:g.43058833_43058835delinsATG GRCh38
NG_008938.1:g.22096_22098delinsCAT , LRG_777:g.22096_22098delinsCAT

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1357_1358+1delinsCAT
ENST00000352178.9:c.1357_1358+1delinsCAT
ENST00000359624.7:c.1357_1358+1delinsCAT
ENST00000398158.5:c.1357_1358+1delinsCAT
ENST00000398165.7:c.1357_1358+1delinsCAT
ENST00000430013.1:c.318_319+1delinsCAT
ENST00000451248.5:c.107_108+1delinsCAT
ENST00000458223.5:c.120_121+1delinsCAT
ENST00000461686.5:n.1668_1669+1delinsCAT
ENST00000462349.5:n.648_649+1delinsCAT
ENST00000491776.1:n.292_293+1delinsCAT
NM_000071.2:c.1357_1358+1delinsCAT , LRG_777t1:c.1357_1358+1delinsCAT
NM_001178008.1:c.1357_1358+1delinsCAT
NM_001178009.1:c.1357_1358+1delinsCAT
XM_011529773.1:c.1408_1409+1delinsCAT
XM_011529774.1:c.1408_1409+1delinsCAT
XM_011529775.1:c.1408_1409+1delinsCAT
XM_011529776.1:c.1408_1409+1delinsCAT
XM_011529777.1:c.1357_1358+1delinsCAT
XM_011529778.1:c.1357_1358+1delinsCAT
XM_011529779.1:c.1357_1358+1delinsCAT
XM_011529781.1:c.1357_1358+1delinsCAT
XM_011529782.1:c.1357_1358+1delinsCAT
XM_011529783.1:c.1042_1043+1delinsCAT
XM_011529784.1:c.1042_1043+1delinsCAT
NM_001178008.2:c.1357_1358+1delinsCAT
NM_001178009.2:c.1357_1358+1delinsCAT
NM_001320298.1:c.1357_1358+1delinsCAT
NM_001321072.1:c.1042_1043+1delinsCAT
XM_011529774.2:c.1408_1409+1delinsCAT
XM_011529777.2:c.1357_1358+1delinsCAT
XM_011529783.2:c.1042_1043+1delinsCAT
XM_017028491.2:c.1357_1358+1delinsCAT
XM_024452136.1:c.1408_1409+1delinsCAT
XM_024452137.1:c.1408_1409+1delinsCAT
XM_024452138.1:c.1042_1043+1delinsCAT
XM_024452139.1:c.1042_1043+1delinsCAT
XM_024452140.1:c.1042_1043+1delinsCAT
XR_001754915.1:n.1728_1729+1delinsCAT
XR_001754916.2:n.1507_1508+1delinsCAT
XR_001754917.2:n.1507_1508+1delinsCAT
XR_002958634.1:n.2328_2329+1delinsCAT
NM_000071.3:c.1357_1358+1delinsCAT
NM_001178009.3:c.1357_1358+1delinsCAT
NM_001178008.3:c.1357_1358+1delinsCAT
NM_001320298.2:c.1357_1358+1delinsCAT