Canonical Allele Identifier: CA2573157460
Community Standard Title: NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC , CM000683.2:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC GRCh38
NG_008938.1:g.17856_17857insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA , LRG_777:g.17856_17857insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA

Transcript Alleles

HGVS Amino-acid Change
NM_000071.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA , LRG_777t1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_000071.3:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178008.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178008.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178008.3:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178009.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178009.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001178009.3:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001320298.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001320298.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_001321072.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000352178.9:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000359624.7:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000398158.5:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000398165.7:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000398165.8:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000461686.5:n.1143_1144insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000486098.1:n.174_175insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
ENST00000496485.1:n.332_333insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529773.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529774.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529774.2:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529775.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529776.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529777.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529777.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529778.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529779.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529781.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529782.1:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529783.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529783.2:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_011529784.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_017028491.2:c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_024452136.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_024452137.1:c.883_884insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_024452138.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_024452139.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XM_024452140.1:c.517_518insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XR_001754915.1:n.1203_1204insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XR_001754916.2:n.982_983insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XR_001754917.2:n.982_983insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
XR_002958634.1:n.1803_1804insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA