Canonical Allele Identifier: CA2391102288
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43060434_43060437delinsGTCT , CM000683.2:g.43060434_43060437delinsGTCT GRCh38
NG_008938.1:g.20494_20497delinsAGAC , LRG_777:g.20494_20497delinsAGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1145+4_1145+7delinsAGAC MANE Select ENSP00000381231.4:n.1145+4_1145+7delinsAG...
ENST00000352178.9:c.1145+4_1145+7delinsAGAC ENSP00000344460.5:n.1145+4_1145+7delinsAG...
ENST00000359624.7:c.1145+4_1145+7delinsAGAC ENSP00000352643.3:n.1145+4_1145+7delinsAG...
ENST00000398158.5:c.1145+4_1145+7delinsAGAC ENSP00000381225.1:n.1145+4_1145+7delinsAG...
ENST00000398165.7:c.1145+4_1145+7delinsAGAC ENSP00000381231.3:n.1145+4_1145+7delinsAG...
ENST00000430013.1:c.106+4_106+7delinsAGAC
ENST00000461686.5:n.1456+4_1456+7delinsAGAC
ENST00000491776.1:n.80+4_80+7delinsAGAC
ENST00000496485.1:n.645+4_645+7delinsAGAC
NM_000071.2:c.1145+4_1145+7delinsAGAC , LRG_777t1:c.1145+4_1145+7delinsAGAC NP_000062.1:n.1145+4_1145+7delinsAGAC
NM_001178008.1:c.1145+4_1145+7delinsAGAC NP_001171479.1:n.1145+4_1145+7delinsAGAC
NM_001178009.1:c.1145+4_1145+7delinsAGAC NP_001171480.1:n.1145+4_1145+7delinsAGAC
XM_011529773.1:c.1196+4_1196+7delinsAGAC XP_011528075.1:n.1196+4_1196+7delinsAGAC
XM_011529774.1:c.1196+4_1196+7delinsAGAC XP_011528076.1:n.1196+4_1196+7delinsAGAC
XM_011529775.1:c.1196+4_1196+7delinsAGAC XP_011528077.1:n.1196+4_1196+7delinsAGAC
XM_011529776.1:c.1196+4_1196+7delinsAGAC XP_011528078.1:n.1196+4_1196+7delinsAGAC
XM_011529777.1:c.1145+4_1145+7delinsAGAC XP_011528079.1:n.1145+4_1145+7delinsAGAC
XM_011529778.1:c.1145+4_1145+7delinsAGAC XP_011528080.1:n.1145+4_1145+7delinsAGAC
XM_011529779.1:c.1145+4_1145+7delinsAGAC XP_011528081.1:n.1145+4_1145+7delinsAGAC
XM_011529781.1:c.1145+4_1145+7delinsAGAC XP_011528083.1:n.1145+4_1145+7delinsAGAC
XM_011529782.1:c.1145+4_1145+7delinsAGAC XP_011528084.1:n.1145+4_1145+7delinsAGAC
XM_011529783.1:c.830+4_830+7delinsAGAC XP_011528085.1:n.830+4_830+7delinsAGAC
XM_011529784.1:c.830+4_830+7delinsAGAC XP_011528086.1:n.830+4_830+7delinsAGAC
NM_001178008.2:c.1145+4_1145+7delinsAGAC NP_001171479.1:n.1145+4_1145+7delinsAGAC
NM_001178009.2:c.1145+4_1145+7delinsAGAC NP_001171480.1:n.1145+4_1145+7delinsAGAC
NM_001320298.1:c.1145+4_1145+7delinsAGAC NP_001307227.1:n.1145+4_1145+7delinsAGAC
NM_001321072.1:c.830+4_830+7delinsAGAC NP_001308001.1:n.830+4_830+7delinsAGAC
XM_011529774.2:c.1196+4_1196+7delinsAGAC XP_011528076.1:n.1196+4_1196+7delinsAGAC
XM_011529777.2:c.1145+4_1145+7delinsAGAC XP_011528079.1:n.1145+4_1145+7delinsAGAC
XM_011529783.2:c.830+4_830+7delinsAGAC XP_011528085.1:n.830+4_830+7delinsAGAC
XM_017028491.2:c.1145+4_1145+7delinsAGAC XP_016883980.1:n.1145+4_1145+7delinsAGAC
XM_024452136.1:c.1196+4_1196+7delinsAGAC XP_024307904.1:n.1196+4_1196+7delinsAGAC
XM_024452137.1:c.1196+4_1196+7delinsAGAC XP_024307905.1:n.1196+4_1196+7delinsAGAC
XM_024452138.1:c.830+4_830+7delinsAGAC XP_024307906.1:n.830+4_830+7delinsAGAC
XM_024452139.1:c.830+4_830+7delinsAGAC XP_024307907.1:n.830+4_830+7delinsAGAC
XM_024452140.1:c.830+4_830+7delinsAGAC XP_024307908.1:n.830+4_830+7delinsAGAC
XR_001754915.1:n.1516+4_1516+7delinsAGAC
XR_001754916.2:n.1295+4_1295+7delinsAGAC
XR_001754917.2:n.1295+4_1295+7delinsAGAC
XR_002958634.1:n.2116+4_2116+7delinsAGAC
NM_000071.3:c.1145+4_1145+7delinsAGAC MANE Select NP_000062.1:n.1145+4_1145+7delinsAGAC
NM_001178009.3:c.1145+4_1145+7delinsAGAC NP_001171480.1:n.1145+4_1145+7delinsAGAC
NM_001178008.3:c.1145+4_1145+7delinsAGAC NP_001171479.1:n.1145+4_1145+7delinsAGAC
NM_001320298.2:c.1145+4_1145+7delinsAGAC NP_001307227.1:n.1145+4_1145+7delinsAGAC