Canonical Allele Identifier: CA3273290989
Community Standard Title: NM_000071.3(CBS):c.676_678delinsACA (p.Ala226Thr)
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43065261_43065263delinsTGT , CM000683.2:g.43065261_43065263delinsTGT GRCh38
NG_008938.1:g.15668_15670delinsACA , LRG_777:g.15668_15670delinsACA

Transcript Alleles

HGVS Amino-acid Change
NM_000071.3:c.676_678delinsACA MANE Select NP_000062.1:p.Ala226Thr
ENST00000398165.8:c.676_678delinsACA MANE Select ENSP00000381231.4:p.Ala226Thr
NM_000071.2:c.676_678delinsACA , LRG_777t1:c.676_678delinsACA NP_000062.1:p.Ala226Thr
NM_001178008.1:c.676_678delinsACA NP_001171479.1:p.Ala226Thr
NM_001178008.2:c.676_678delinsACA NP_001171479.1:p.Ala226Thr
NM_001178008.3:c.676_678delinsACA NP_001171479.1:p.Ala226Thr
NM_001178009.1:c.676_678delinsACA NP_001171480.1:p.Ala226Thr
NM_001178009.2:c.676_678delinsACA NP_001171480.1:p.Ala226Thr
NM_001178009.3:c.676_678delinsACA NP_001171480.1:p.Ala226Thr
NM_001320298.1:c.676_678delinsACA NP_001307227.1:p.Ala226Thr
NM_001320298.2:c.676_678delinsACA NP_001307227.1:p.Ala226Thr
NM_001321072.1:c.361_363delinsACA NP_001308001.1:p.Ala121Thr
ENST00000352178.9:c.676_678delinsACA ENSP00000344460.5:p.Ala226Thr
ENST00000359624.7:c.676_678delinsACA ENSP00000352643.3:p.Ala226Thr
ENST00000398158.5:c.676_678delinsACA ENSP00000381225.1:p.Ala226Thr
ENST00000398165.7:c.676_678delinsACA ENSP00000381231.3:p.Ala226Thr
ENST00000461686.5:n.987_989delinsACA
XM_011529773.1:c.727_729delinsACA XP_011528075.1:p.Ala243Thr
XM_011529774.1:c.727_729delinsACA XP_011528076.1:p.Ala243Thr
XM_011529774.2:c.727_729delinsACA XP_011528076.1:p.Ala243Thr
XM_011529775.1:c.727_729delinsACA XP_011528077.1:p.Ala243Thr
XM_011529776.1:c.727_729delinsACA XP_011528078.1:p.Ala243Thr
XM_011529777.1:c.676_678delinsACA XP_011528079.1:p.Ala226Thr
XM_011529777.2:c.676_678delinsACA XP_011528079.1:p.Ala226Thr
XM_011529778.1:c.676_678delinsACA XP_011528080.1:p.Ala226Thr
XM_011529779.1:c.676_678delinsACA XP_011528081.1:p.Ala226Thr
XM_011529781.1:c.676_678delinsACA XP_011528083.1:p.Ala226Thr
XM_011529782.1:c.676_678delinsACA XP_011528084.1:p.Ala226Thr
XM_011529783.1:c.361_363delinsACA XP_011528085.1:p.Ala121Thr
XM_011529783.2:c.361_363delinsACA XP_011528085.1:p.Ala121Thr
XM_011529784.1:c.361_363delinsACA XP_011528086.1:p.Ala121Thr
XM_017028491.2:c.676_678delinsACA XP_016883980.1:p.Ala226Thr
XM_024452136.1:c.727_729delinsACA XP_024307904.1:p.Ala243Thr
XM_024452137.1:c.727_729delinsACA XP_024307905.1:p.Ala243Thr
XM_024452138.1:c.361_363delinsACA XP_024307906.1:p.Ala121Thr
XM_024452139.1:c.361_363delinsACA XP_024307907.1:p.Ala121Thr
XM_024452140.1:c.361_363delinsACA XP_024307908.1:p.Ala121Thr
XR_001754915.1:n.1047_1049delinsACA
XR_001754916.2:n.826_828delinsACA
XR_001754917.2:n.826_828delinsACA
XR_002958634.1:n.826_828delinsACA