Canonical Allele Identifier: CA2391105910

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43071976_43071986delinsAGGACTTACGG , CM000683.2:g.43071976_43071986delinsAGGACTTACGG	GRCh38
NG_008938.1:g.8945_8955delinsCCGTAAGTCCT , LRG_777:g.8945_8955delinsCCGTAAGTCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.208_209+9delinsCCGTAAGTCCT
ENST00000352178.9:c.208_209+9delinsCCGTAAGTCCT
ENST00000359624.7:c.208_209+9delinsCCGTAAGTCCT
ENST00000398158.5:c.208_209+9delinsCCGTAAGTCCT
ENST00000398165.7:c.208_209+9delinsCCGTAAGTCCT
ENST00000441030.5:c.208_209+9delinsCCGTAAGTCCT
ENST00000465732.5:n.387_388+9delinsCCGTAAGTCCT
ENST00000470912.5:n.468_469+9delinsCCGTAAGTCCT
ENST00000488526.1:n.459_460+9delinsCCGTAAGTCCT
NM_000071.2:c.208_209+9delinsCCGTAAGTCCT , LRG_777t1:c.208_209+9delinsCCGTAAGTCCT
NM_001178008.1:c.208_209+9delinsCCGTAAGTCCT
NM_001178009.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529777.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529778.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529779.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529781.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529782.1:c.208_209+9delinsCCGTAAGTCCT
NM_001178008.2:c.208_209+9delinsCCGTAAGTCCT
NM_001178009.2:c.208_209+9delinsCCGTAAGTCCT
NM_001320298.1:c.208_209+9delinsCCGTAAGTCCT
XM_011529777.2:c.208_209+9delinsCCGTAAGTCCT
XM_017028491.2:c.208_209+9delinsCCGTAAGTCCT
XM_024452136.1:c.-561_-560+9delinsCCGTAAGTCCT
XM_024452137.1:c.-561_-560+9delinsCCGTAAGTCCT
XM_024452138.1:c.-839_-838+9delinsCCGTAAGTCCT
XM_024452139.1:c.-839_-838+9delinsCCGTAAGTCCT
XM_024452140.1:c.-839_-838+9delinsCCGTAAGTCCT
XR_001754916.2:n.358_359+9delinsCCGTAAGTCCT
XR_001754917.2:n.358_359+9delinsCCGTAAGTCCT
XR_002958634.1:n.358_359+9delinsCCGTAAGTCCT
NM_000071.3:c.208_209+9delinsCCGTAAGTCCT
NM_001178009.3:c.208_209+9delinsCCGTAAGTCCT
NM_001178008.3:c.208_209+9delinsCCGTAAGTCCT
NM_001320298.2:c.208_209+9delinsCCGTAAGTCCT