Canonical Allele Identifier: CA2391101802

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43059054_43059103delinsAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACG , CM000683.2:g.43059054_43059103delinsAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACG	GRCh38
NG_008938.1:g.21828_21877delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT , LRG_777:g.21828_21877delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT MANE Select	ENSP00000381231.4:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCT...
ENST00000352178.9:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	ENSP00000344460.5:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCT...
ENST00000359624.7:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	ENSP00000352643.3:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCT...
ENST00000398158.5:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	ENSP00000381225.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCT...
ENST00000398165.7:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	ENSP00000381231.3:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCT...
ENST00000430013.1:c.184+123_185-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
ENST00000461686.5:n.1534+123_1535-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
ENST00000462349.5:n.514+123_515-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
ENST00000491776.1:n.158+123_159-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
NM_000071.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT , LRG_777t1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_000062.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAG...
NM_001178008.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171479.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001178009.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171480.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529773.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528075.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529774.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528076.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529775.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528077.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529776.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528078.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529777.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528079.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529778.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528080.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529779.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528081.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529781.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528083.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529782.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528084.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529783.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528085.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XM_011529784.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528086.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
NM_001178008.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171479.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001178009.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171480.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001320298.1:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001307227.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001321072.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001308001.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XM_011529774.2:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528076.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529777.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528079.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_011529783.2:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_011528085.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XM_017028491.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_016883980.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_024452136.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_024307904.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_024452137.1:c.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_024307905.1:n.1274+123_1275-86delinsCGTGGCCTGTGCTGGCCCTGCC...
XM_024452138.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_024307906.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XM_024452139.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_024307907.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XM_024452140.1:c.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	XP_024307908.1:n.908+123_909-86delinsCGTGGCCTGTGCTGGCCCTGCCCA...
XR_001754915.1:n.1594+123_1595-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
XR_001754916.2:n.1373+123_1374-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
XR_001754917.2:n.1373+123_1374-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
XR_002958634.1:n.2194+123_2195-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT
NM_000071.3:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT MANE Select	NP_000062.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAG...
NM_001178009.3:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171480.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001178008.3:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001171479.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...
NM_001320298.2:c.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCCCAGTGTGACAGGCAGGAGAGCGGTCCCT	NP_001307227.1:n.1223+123_1224-86delinsCGTGGCCTGTGCTGGCCCTGCC...