Canonical Allele Identifier: CA2391104975
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43068427_43068437delinsTCCCAGGACCC , CM000683.2:g.43068427_43068437delinsTCCCAGGACCC GRCh38
NG_008938.1:g.12494_12504delinsGGGTCCTGGGA , LRG_777:g.12494_12504delinsGGGTCCTGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.316+72_316+82delinsGGGTCCTGGGA MANE Select ENSP00000381231.4:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000352178.9:c.316+72_316+82delinsGGGTCCTGGGA ENSP00000344460.5:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000359624.7:c.316+72_316+82delinsGGGTCCTGGGA ENSP00000352643.3:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000398158.5:c.316+72_316+82delinsGGGTCCTGGGA ENSP00000381225.1:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000398165.7:c.316+72_316+82delinsGGGTCCTGGGA ENSP00000381231.3:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000441030.5:c.316+72_316+82delinsGGGTCCTGGGA ENSP00000388235.1:n.316+72_316+82delinsGGGTCCTGGGA
ENST00000465732.5:n.567_577delinsGGGTCCTGGGA
ENST00000470912.5:n.576+72_576+82delinsGGGTCCTGGGA
ENST00000488526.1:n.639_649delinsGGGTCCTGGGA
NM_000071.2:c.316+72_316+82delinsGGGTCCTGGGA , LRG_777t1:c.316+72_316+82delinsGGGTCCTGGGA NP_000062.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178008.1:c.316+72_316+82delinsGGGTCCTGGGA NP_001171479.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178009.1:c.316+72_316+82delinsGGGTCCTGGGA NP_001171480.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529777.1:c.316+72_316+82delinsGGGTCCTGGGA XP_011528079.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529778.1:c.316+72_316+82delinsGGGTCCTGGGA XP_011528080.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529779.1:c.316+72_316+82delinsGGGTCCTGGGA XP_011528081.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529781.1:c.316+72_316+82delinsGGGTCCTGGGA XP_011528083.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529782.1:c.316+72_316+82delinsGGGTCCTGGGA XP_011528084.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178008.2:c.316+72_316+82delinsGGGTCCTGGGA NP_001171479.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178009.2:c.316+72_316+82delinsGGGTCCTGGGA NP_001171480.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001320298.1:c.316+72_316+82delinsGGGTCCTGGGA NP_001307227.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_011529777.2:c.316+72_316+82delinsGGGTCCTGGGA XP_011528079.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_017028491.2:c.316+72_316+82delinsGGGTCCTGGGA XP_016883980.1:n.316+72_316+82delinsGGGTCCTGGGA
XM_024452136.1:c.-381_-371delinsGGGTCCTGGGA XP_024307904.1:n.-381_-371delinsGGGTCCTGGGA
XM_024452137.1:c.-381_-371delinsGGGTCCTGGGA XP_024307905.1:n.-381_-371delinsGGGTCCTGGGA
XM_024452138.1:c.-659_-649delinsGGGTCCTGGGA XP_024307906.1:n.-659_-649delinsGGGTCCTGGGA
XM_024452139.1:c.-659_-649delinsGGGTCCTGGGA XP_024307907.1:n.-659_-649delinsGGGTCCTGGGA
XM_024452140.1:c.-659_-649delinsGGGTCCTGGGA XP_024307908.1:n.-659_-649delinsGGGTCCTGGGA
XR_001754916.2:n.466+72_466+82delinsGGGTCCTGGGA
XR_001754917.2:n.466+72_466+82delinsGGGTCCTGGGA
XR_002958634.1:n.466+72_466+82delinsGGGTCCTGGGA
NM_000071.3:c.316+72_316+82delinsGGGTCCTGGGA MANE Select NP_000062.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178009.3:c.316+72_316+82delinsGGGTCCTGGGA NP_001171480.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001178008.3:c.316+72_316+82delinsGGGTCCTGGGA NP_001171479.1:n.316+72_316+82delinsGGGTCCTGGGA
NM_001320298.2:c.316+72_316+82delinsGGGTCCTGGGA NP_001307227.1:n.316+72_316+82delinsGGGTCCTGGGA