Canonical Allele Identifier: CA2391101846
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43059217_43059230delinsCGGTCTTACCAGGG , CM000683.2:g.43059217_43059230delinsCGGTCTTACCAGGG GRCh38
NG_008938.1:g.21701_21714delinsCCCTGGTAAGACCG , LRG_777:g.21701_21714delinsCCCTGGTAAGACCG

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1219_1223+9delinsCCCTGGTAAGACCG
ENST00000352178.9:c.1219_1223+9delinsCCCTGGTAAGACCG
ENST00000359624.7:c.1219_1223+9delinsCCCTGGTAAGACCG
ENST00000398158.5:c.1219_1223+9delinsCCCTGGTAAGACCG
ENST00000398165.7:c.1219_1223+9delinsCCCTGGTAAGACCG
ENST00000430013.1:c.180_184+9delinsCCCTGGTAAGACCG
ENST00000461686.5:n.1530_1534+9delinsCCCTGGTAAGACCG
ENST00000462349.5:n.510_514+9delinsCCCTGGTAAGACCG
ENST00000491776.1:n.154_158+9delinsCCCTGGTAAGACCG
NM_000071.2:c.1219_1223+9delinsCCCTGGTAAGACCG , LRG_777t1:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001178008.1:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001178009.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529773.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_011529774.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_011529775.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_011529776.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_011529777.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529778.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529779.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529781.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529782.1:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529783.1:c.904_908+9delinsCCCTGGTAAGACCG
XM_011529784.1:c.904_908+9delinsCCCTGGTAAGACCG
NM_001178008.2:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001178009.2:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001320298.1:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001321072.1:c.904_908+9delinsCCCTGGTAAGACCG
XM_011529774.2:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_011529777.2:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_011529783.2:c.904_908+9delinsCCCTGGTAAGACCG
XM_017028491.2:c.1219_1223+9delinsCCCTGGTAAGACCG
XM_024452136.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_024452137.1:c.1270_1274+9delinsCCCTGGTAAGACCG
XM_024452138.1:c.904_908+9delinsCCCTGGTAAGACCG
XM_024452139.1:c.904_908+9delinsCCCTGGTAAGACCG
XM_024452140.1:c.904_908+9delinsCCCTGGTAAGACCG
XR_001754915.1:n.1590_1594+9delinsCCCTGGTAAGACCG
XR_001754916.2:n.1369_1373+9delinsCCCTGGTAAGACCG
XR_001754917.2:n.1369_1373+9delinsCCCTGGTAAGACCG
XR_002958634.1:n.2190_2194+9delinsCCCTGGTAAGACCG
NM_000071.3:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001178009.3:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001178008.3:c.1219_1223+9delinsCCCTGGTAAGACCG
NM_001320298.2:c.1219_1223+9delinsCCCTGGTAAGACCG