Canonical Allele Identifier: CA2579805740

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43060440_43060442delinsAAA , CM000683.2:g.43060440_43060442delinsAAA	GRCh38
NG_008938.1:g.20489_20491delinsTTT , LRG_777:g.20489_20491delinsTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1144_1145+1delinsTTT
ENST00000352178.9:c.1144_1145+1delinsTTT
ENST00000359624.7:c.1144_1145+1delinsTTT
ENST00000398158.5:c.1144_1145+1delinsTTT
ENST00000398165.7:c.1144_1145+1delinsTTT
ENST00000430013.1:c.105_106+1delinsTTT
ENST00000461686.5:n.1455_1456+1delinsTTT
ENST00000491776.1:n.79_80+1delinsTTT
ENST00000496485.1:n.644_645+1delinsTTT
NM_000071.2:c.1144_1145+1delinsTTT , LRG_777t1:c.1144_1145+1delinsTTT
NM_001178008.1:c.1144_1145+1delinsTTT
NM_001178009.1:c.1144_1145+1delinsTTT
XM_011529773.1:c.1195_1196+1delinsTTT
XM_011529774.1:c.1195_1196+1delinsTTT
XM_011529775.1:c.1195_1196+1delinsTTT
XM_011529776.1:c.1195_1196+1delinsTTT
XM_011529777.1:c.1144_1145+1delinsTTT
XM_011529778.1:c.1144_1145+1delinsTTT
XM_011529779.1:c.1144_1145+1delinsTTT
XM_011529781.1:c.1144_1145+1delinsTTT
XM_011529782.1:c.1144_1145+1delinsTTT
XM_011529783.1:c.829_830+1delinsTTT
XM_011529784.1:c.829_830+1delinsTTT
NM_001178008.2:c.1144_1145+1delinsTTT
NM_001178009.2:c.1144_1145+1delinsTTT
NM_001320298.1:c.1144_1145+1delinsTTT
NM_001321072.1:c.829_830+1delinsTTT
XM_011529774.2:c.1195_1196+1delinsTTT
XM_011529777.2:c.1144_1145+1delinsTTT
XM_011529783.2:c.829_830+1delinsTTT
XM_017028491.2:c.1144_1145+1delinsTTT
XM_024452136.1:c.1195_1196+1delinsTTT
XM_024452137.1:c.1195_1196+1delinsTTT
XM_024452138.1:c.829_830+1delinsTTT
XM_024452139.1:c.829_830+1delinsTTT
XM_024452140.1:c.829_830+1delinsTTT
XR_001754915.1:n.1515_1516+1delinsTTT
XR_001754916.2:n.1294_1295+1delinsTTT
XR_001754917.2:n.1294_1295+1delinsTTT
XR_002958634.1:n.2115_2116+1delinsTTT
NM_000071.3:c.1144_1145+1delinsTTT
NM_001178009.3:c.1144_1145+1delinsTTT
NM_001178008.3:c.1144_1145+1delinsTTT
NM_001320298.2:c.1144_1145+1delinsTTT