Canonical Allele Identifier: CA2579809443
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43063070_43063071delinsAG , CM000683.2:g.43063070_43063071delinsAG GRCh38
NG_008938.1:g.17860_17861delinsCT , LRG_777:g.17860_17861delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.836_837delinsCT MANE Select ENSP00000381231.4:p.Gly279Ala
ENST00000352178.9:c.836_837delinsCT ENSP00000344460.5:p.Gly279Ala
ENST00000359624.7:c.836_837delinsCT ENSP00000352643.3:p.Gly279Ala
ENST00000398158.5:c.836_837delinsCT ENSP00000381225.1:p.Gly279Ala
ENST00000398165.7:c.836_837delinsCT ENSP00000381231.3:p.Gly279Ala
ENST00000461686.5:n.1147_1148delinsCT
ENST00000486098.1:n.178_179delinsCT
ENST00000496485.1:n.336_337delinsCT
NM_000071.2:c.836_837delinsCT , LRG_777t1:c.836_837delinsCT NP_000062.1:p.Gly279Ala
NM_001178008.1:c.836_837delinsCT NP_001171479.1:p.Gly279Ala
NM_001178009.1:c.836_837delinsCT NP_001171480.1:p.Gly279Ala
XM_011529773.1:c.887_888delinsCT XP_011528075.1:p.Gly296Ala
XM_011529774.1:c.887_888delinsCT XP_011528076.1:p.Gly296Ala
XM_011529775.1:c.887_888delinsCT XP_011528077.1:p.Gly296Ala
XM_011529776.1:c.887_888delinsCT XP_011528078.1:p.Gly296Ala
XM_011529777.1:c.836_837delinsCT XP_011528079.1:p.Gly279Ala
XM_011529778.1:c.836_837delinsCT XP_011528080.1:p.Gly279Ala
XM_011529779.1:c.836_837delinsCT XP_011528081.1:p.Gly279Ala
XM_011529781.1:c.836_837delinsCT XP_011528083.1:p.Gly279Ala
XM_011529782.1:c.836_837delinsCT XP_011528084.1:p.Gly279Ala
XM_011529783.1:c.521_522delinsCT XP_011528085.1:p.Gly174Ala
XM_011529784.1:c.521_522delinsCT XP_011528086.1:p.Gly174Ala
NM_001178008.2:c.836_837delinsCT NP_001171479.1:p.Gly279Ala
NM_001178009.2:c.836_837delinsCT NP_001171480.1:p.Gly279Ala
NM_001320298.1:c.836_837delinsCT NP_001307227.1:p.Gly279Ala
NM_001321072.1:c.521_522delinsCT NP_001308001.1:p.Gly174Ala
XM_011529774.2:c.887_888delinsCT XP_011528076.1:p.Gly296Ala
XM_011529777.2:c.836_837delinsCT XP_011528079.1:p.Gly279Ala
XM_011529783.2:c.521_522delinsCT XP_011528085.1:p.Gly174Ala
XM_017028491.2:c.836_837delinsCT XP_016883980.1:p.Gly279Ala
XM_024452136.1:c.887_888delinsCT XP_024307904.1:p.Gly296Ala
XM_024452137.1:c.887_888delinsCT XP_024307905.1:p.Gly296Ala
XM_024452138.1:c.521_522delinsCT XP_024307906.1:p.Gly174Ala
XM_024452139.1:c.521_522delinsCT XP_024307907.1:p.Gly174Ala
XM_024452140.1:c.521_522delinsCT XP_024307908.1:p.Gly174Ala
XR_001754915.1:n.1207_1208delinsCT
XR_001754916.2:n.986_987delinsCT
XR_001754917.2:n.986_987delinsCT
XR_002958634.1:n.1807_1808delinsCT
NM_000071.3:c.836_837delinsCT MANE Select NP_000062.1:p.Gly279Ala
NM_001178009.3:c.836_837delinsCT NP_001171480.1:p.Gly279Ala
NM_001178008.3:c.836_837delinsCT NP_001171479.1:p.Gly279Ala
NM_001320298.2:c.836_837delinsCT NP_001307227.1:p.Gly279Ala