Canonical Allele Identifier: CA2654729162
Gene: CBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43068678_43068679insTGGACCAGGGAACGAACAGGTGACCTTTGAACTGAGGC , CM000683.2:g.43068678_43068679insTGGACCAGGGAACGAACAGGTGACCTTTGAACTGAGGC GRCh38
NG_008938.1:g.12252_12253insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA , LRG_777:g.12252_12253insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA MANE Select ENSP00000381231.4:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000352178.9:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA ENSP00000344460.5:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000359624.7:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA ENSP00000352643.3:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000398158.5:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA ENSP00000381225.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000398165.7:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA ENSP00000381231.3:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000441030.5:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA ENSP00000388235.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTC...
ENST00000465732.5:n.389-64_389-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
ENST00000470912.5:n.470-64_470-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
ENST00000488526.1:n.461-64_461-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
NM_000071.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA , LRG_777t1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_000062.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCC...
NM_001178008.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171479.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001178009.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171480.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529777.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528079.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529778.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528080.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529779.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528081.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529781.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528083.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529782.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528084.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001178008.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171479.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001178009.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171480.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001320298.1:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001307227.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_011529777.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_011528079.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_017028491.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_016883980.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
XM_024452136.1:c.-559-64_-559-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_024307904.1:n.-559-64_-559-63insGCCTCAGTTCAAAGGTCACCTGTTCG...
XM_024452137.1:c.-559-64_-559-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_024307905.1:n.-559-64_-559-63insGCCTCAGTTCAAAGGTCACCTGTTCG...
XM_024452138.1:c.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_024307906.1:n.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCG...
XM_024452139.1:c.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_024307907.1:n.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCG...
XM_024452140.1:c.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA XP_024307908.1:n.-837-64_-837-63insGCCTCAGTTCAAAGGTCACCTGTTCG...
XR_001754916.2:n.360-64_360-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
XR_001754917.2:n.360-64_360-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
XR_002958634.1:n.360-64_360-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
NM_000071.3:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA MANE Select NP_000062.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCC...
NM_001178009.3:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171480.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001178008.3:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001171479.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...
NM_001320298.2:c.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA NP_001307227.1:n.210-64_210-63insGCCTCAGTTCAAAGGTCACCTGTTCGTT...