Canonical Allele Identifier: CA16621014
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 419185
ClinVar RCV Id: RCV000487415
dbSNP Id: rs1064793703

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43062344_43062345delinsAA , CM000683.2:g.43062344_43062345delinsAA GRCh38
NG_008938.1:g.18586_18587delinsTT , LRG_777:g.18586_18587delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1005_1006delinsTT MANE Select ENSP00000381231.4:p.Arg336Cys
ENST00000352178.9:c.1005_1006delinsTT ENSP00000344460.5:p.Arg336Cys
ENST00000359624.7:c.1005_1006delinsTT ENSP00000352643.3:p.Arg336Cys
ENST00000398158.5:c.1005_1006delinsTT ENSP00000381225.1:p.Arg336Cys
ENST00000398165.7:c.1005_1006delinsTT ENSP00000381231.3:p.Arg336Cys
ENST00000461686.5:n.1316_1317delinsTT
ENST00000486098.1:n.347_348delinsTT
ENST00000496485.1:n.505_506delinsTT
NM_000071.2:c.1005_1006delinsTT , LRG_777t1:c.1005_1006delinsTT NP_000062.1:p.Arg336Cys
NM_001178008.1:c.1005_1006delinsTT NP_001171479.1:p.Arg336Cys
NM_001178009.1:c.1005_1006delinsTT NP_001171480.1:p.Arg336Cys
XM_011529773.1:c.1056_1057delinsTT XP_011528075.1:p.Arg353Cys
XM_011529774.1:c.1056_1057delinsTT XP_011528076.1:p.Arg353Cys
XM_011529775.1:c.1056_1057delinsTT XP_011528077.1:p.Arg353Cys
XM_011529776.1:c.1056_1057delinsTT XP_011528078.1:p.Arg353Cys
XM_011529777.1:c.1005_1006delinsTT XP_011528079.1:p.Arg336Cys
XM_011529778.1:c.1005_1006delinsTT XP_011528080.1:p.Arg336Cys
XM_011529779.1:c.1005_1006delinsTT XP_011528081.1:p.Arg336Cys
XM_011529781.1:c.1005_1006delinsTT XP_011528083.1:p.Arg336Cys
XM_011529782.1:c.1005_1006delinsTT XP_011528084.1:p.Arg336Cys
XM_011529783.1:c.690_691delinsTT XP_011528085.1:p.Arg231Cys
XM_011529784.1:c.690_691delinsTT XP_011528086.1:p.Arg231Cys
NM_001178008.2:c.1005_1006delinsTT NP_001171479.1:p.Arg336Cys
NM_001178009.2:c.1005_1006delinsTT NP_001171480.1:p.Arg336Cys
NM_001320298.1:c.1005_1006delinsTT NP_001307227.1:p.Arg336Cys
NM_001321072.1:c.690_691delinsTT NP_001308001.1:p.Arg231Cys
XM_011529774.2:c.1056_1057delinsTT XP_011528076.1:p.Arg353Cys
XM_011529777.2:c.1005_1006delinsTT XP_011528079.1:p.Arg336Cys
XM_011529783.2:c.690_691delinsTT XP_011528085.1:p.Arg231Cys
XM_017028491.2:c.1005_1006delinsTT XP_016883980.1:p.Arg336Cys
XM_024452136.1:c.1056_1057delinsTT XP_024307904.1:p.Arg353Cys
XM_024452137.1:c.1056_1057delinsTT XP_024307905.1:p.Arg353Cys
XM_024452138.1:c.690_691delinsTT XP_024307906.1:p.Arg231Cys
XM_024452139.1:c.690_691delinsTT XP_024307907.1:p.Arg231Cys
XM_024452140.1:c.690_691delinsTT XP_024307908.1:p.Arg231Cys
XR_001754915.1:n.1376_1377delinsTT
XR_001754916.2:n.1155_1156delinsTT
XR_001754917.2:n.1155_1156delinsTT
XR_002958634.1:n.1976_1977delinsTT
NM_000071.3:c.1005_1006delinsTT MANE Select NP_000062.1:p.Arg336Cys
NM_001178009.3:c.1005_1006delinsTT NP_001171480.1:p.Arg336Cys
NM_001178008.3:c.1005_1006delinsTT NP_001171479.1:p.Arg336Cys
NM_001320298.2:c.1005_1006delinsTT NP_001307227.1:p.Arg336Cys