Canonical Allele Identifier: CA2391104231
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43066440_43066441delinsAC , CM000683.2:g.43066440_43066441delinsAC GRCh38
NG_008938.1:g.14490_14491delinsGT , LRG_777:g.14490_14491delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.317-64_317-63delinsGT MANE Select ENSP00000381231.4:n.317-64_317-63delinsGT
ENST00000352178.9:c.317-64_317-63delinsGT ENSP00000344460.5:n.317-64_317-63delinsGT
ENST00000359624.7:c.317-64_317-63delinsGT ENSP00000352643.3:n.317-64_317-63delinsGT
ENST00000398158.5:c.317-64_317-63delinsGT ENSP00000381225.1:n.317-64_317-63delinsGT
ENST00000398165.7:c.317-64_317-63delinsGT ENSP00000381231.3:n.317-64_317-63delinsGT
ENST00000441030.5:c.317-64_317-63delinsGT ENSP00000388235.1:n.317-64_317-63delinsGT
ENST00000461686.5:n.628-64_628-63delinsGT
ENST00000470912.5:n.760-64_760-63delinsGT
NM_000071.2:c.317-64_317-63delinsGT , LRG_777t1:c.317-64_317-63delinsGT NP_000062.1:n.317-64_317-63delinsGT
NM_001178008.1:c.317-64_317-63delinsGT NP_001171479.1:n.317-64_317-63delinsGT
NM_001178009.1:c.317-64_317-63delinsGT NP_001171480.1:n.317-64_317-63delinsGT
XM_011529773.1:c.368-64_368-63delinsGT XP_011528075.1:n.368-64_368-63delinsGT
XM_011529774.1:c.368-64_368-63delinsGT XP_011528076.1:n.368-64_368-63delinsGT
XM_011529775.1:c.368-64_368-63delinsGT XP_011528077.1:n.368-64_368-63delinsGT
XM_011529776.1:c.368-64_368-63delinsGT XP_011528078.1:n.368-64_368-63delinsGT
XM_011529777.1:c.317-64_317-63delinsGT XP_011528079.1:n.317-64_317-63delinsGT
XM_011529778.1:c.317-64_317-63delinsGT XP_011528080.1:n.317-64_317-63delinsGT
XM_011529779.1:c.317-64_317-63delinsGT XP_011528081.1:n.317-64_317-63delinsGT
XM_011529781.1:c.317-64_317-63delinsGT XP_011528083.1:n.317-64_317-63delinsGT
XM_011529782.1:c.317-64_317-63delinsGT XP_011528084.1:n.317-64_317-63delinsGT
XM_011529783.1:c.2-64_2-63delinsGT XP_011528085.1:n.2-64_2-63delinsGT
XM_011529784.1:c.2-64_2-63delinsGT XP_011528086.1:n.2-64_2-63delinsGT
NM_001178008.2:c.317-64_317-63delinsGT NP_001171479.1:n.317-64_317-63delinsGT
NM_001178009.2:c.317-64_317-63delinsGT NP_001171480.1:n.317-64_317-63delinsGT
NM_001320298.1:c.317-64_317-63delinsGT NP_001307227.1:n.317-64_317-63delinsGT
NM_001321072.1:c.2-64_2-63delinsGT NP_001308001.1:n.2-64_2-63delinsGT
XM_011529774.2:c.368-64_368-63delinsGT XP_011528076.1:n.368-64_368-63delinsGT
XM_011529777.2:c.317-64_317-63delinsGT XP_011528079.1:n.317-64_317-63delinsGT
XM_011529783.2:c.2-64_2-63delinsGT XP_011528085.1:n.2-64_2-63delinsGT
XM_017028491.2:c.317-64_317-63delinsGT XP_016883980.1:n.317-64_317-63delinsGT
XM_024452136.1:c.368-64_368-63delinsGT XP_024307904.1:n.368-64_368-63delinsGT
XM_024452137.1:c.368-64_368-63delinsGT XP_024307905.1:n.368-64_368-63delinsGT
XM_024452138.1:c.2-64_2-63delinsGT XP_024307906.1:n.2-64_2-63delinsGT
XM_024452139.1:c.2-64_2-63delinsGT XP_024307907.1:n.2-64_2-63delinsGT
XM_024452140.1:c.2-64_2-63delinsGT XP_024307908.1:n.2-64_2-63delinsGT
XR_001754915.1:n.688-64_688-63delinsGT
XR_001754916.2:n.467-64_467-63delinsGT
XR_001754917.2:n.467-64_467-63delinsGT
XR_002958634.1:n.467-64_467-63delinsGT
NM_000071.3:c.317-64_317-63delinsGT MANE Select NP_000062.1:n.317-64_317-63delinsGT
NM_001178009.3:c.317-64_317-63delinsGT NP_001171480.1:n.317-64_317-63delinsGT
NM_001178008.3:c.317-64_317-63delinsGT NP_001171479.1:n.317-64_317-63delinsGT
NM_001320298.2:c.317-64_317-63delinsGT NP_001307227.1:n.317-64_317-63delinsGT