Canonical Allele Identifier: CA2579813393

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43059225_43059227delinsACC , CM000683.2:g.43059225_43059227delinsACC	GRCh38
NG_008938.1:g.21704_21706delinsGGT , LRG_777:g.21704_21706delinsGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1222_1223+1delinsGGT
ENST00000352178.9:c.1222_1223+1delinsGGT
ENST00000359624.7:c.1222_1223+1delinsGGT
ENST00000398158.5:c.1222_1223+1delinsGGT
ENST00000398165.7:c.1222_1223+1delinsGGT
ENST00000430013.1:c.183_184+1delinsGGT
ENST00000461686.5:n.1533_1534+1delinsGGT
ENST00000462349.5:n.513_514+1delinsGGT
ENST00000491776.1:n.157_158+1delinsGGT
NM_000071.2:c.1222_1223+1delinsGGT , LRG_777t1:c.1222_1223+1delinsGGT
NM_001178008.1:c.1222_1223+1delinsGGT
NM_001178009.1:c.1222_1223+1delinsGGT
XM_011529773.1:c.1273_1274+1delinsGGT
XM_011529774.1:c.1273_1274+1delinsGGT
XM_011529775.1:c.1273_1274+1delinsGGT
XM_011529776.1:c.1273_1274+1delinsGGT
XM_011529777.1:c.1222_1223+1delinsGGT
XM_011529778.1:c.1222_1223+1delinsGGT
XM_011529779.1:c.1222_1223+1delinsGGT
XM_011529781.1:c.1222_1223+1delinsGGT
XM_011529782.1:c.1222_1223+1delinsGGT
XM_011529783.1:c.907_908+1delinsGGT
XM_011529784.1:c.907_908+1delinsGGT
NM_001178008.2:c.1222_1223+1delinsGGT
NM_001178009.2:c.1222_1223+1delinsGGT
NM_001320298.1:c.1222_1223+1delinsGGT
NM_001321072.1:c.907_908+1delinsGGT
XM_011529774.2:c.1273_1274+1delinsGGT
XM_011529777.2:c.1222_1223+1delinsGGT
XM_011529783.2:c.907_908+1delinsGGT
XM_017028491.2:c.1222_1223+1delinsGGT
XM_024452136.1:c.1273_1274+1delinsGGT
XM_024452137.1:c.1273_1274+1delinsGGT
XM_024452138.1:c.907_908+1delinsGGT
XM_024452139.1:c.907_908+1delinsGGT
XM_024452140.1:c.907_908+1delinsGGT
XR_001754915.1:n.1593_1594+1delinsGGT
XR_001754916.2:n.1372_1373+1delinsGGT
XR_001754917.2:n.1372_1373+1delinsGGT
XR_002958634.1:n.2193_2194+1delinsGGT
NM_000071.3:c.1222_1223+1delinsGGT
NM_001178009.3:c.1222_1223+1delinsGGT
NM_001178008.3:c.1222_1223+1delinsGGT
NM_001320298.2:c.1222_1223+1delinsGGT