Canonical Allele Identifier: CA2579809439

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43063070_43063072delinsATG , CM000683.2:g.43063070_43063072delinsATG	GRCh38
NG_008938.1:g.17859_17861delinsCAT , LRG_777:g.17859_17861delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.835_837delinsCAT MANE Select	ENSP00000381231.4:p.Gly279His
ENST00000352178.9:c.835_837delinsCAT	ENSP00000344460.5:p.Gly279His
ENST00000359624.7:c.835_837delinsCAT	ENSP00000352643.3:p.Gly279His
ENST00000398158.5:c.835_837delinsCAT	ENSP00000381225.1:p.Gly279His
ENST00000398165.7:c.835_837delinsCAT	ENSP00000381231.3:p.Gly279His
ENST00000461686.5:n.1146_1148delinsCAT
ENST00000486098.1:n.177_179delinsCAT
ENST00000496485.1:n.335_337delinsCAT
NM_000071.2:c.835_837delinsCAT , LRG_777t1:c.835_837delinsCAT	NP_000062.1:p.Gly279His
NM_001178008.1:c.835_837delinsCAT	NP_001171479.1:p.Gly279His
NM_001178009.1:c.835_837delinsCAT	NP_001171480.1:p.Gly279His
XM_011529773.1:c.886_888delinsCAT	XP_011528075.1:p.Gly296His
XM_011529774.1:c.886_888delinsCAT	XP_011528076.1:p.Gly296His
XM_011529775.1:c.886_888delinsCAT	XP_011528077.1:p.Gly296His
XM_011529776.1:c.886_888delinsCAT	XP_011528078.1:p.Gly296His
XM_011529777.1:c.835_837delinsCAT	XP_011528079.1:p.Gly279His
XM_011529778.1:c.835_837delinsCAT	XP_011528080.1:p.Gly279His
XM_011529779.1:c.835_837delinsCAT	XP_011528081.1:p.Gly279His
XM_011529781.1:c.835_837delinsCAT	XP_011528083.1:p.Gly279His
XM_011529782.1:c.835_837delinsCAT	XP_011528084.1:p.Gly279His
XM_011529783.1:c.520_522delinsCAT	XP_011528085.1:p.Gly174His
XM_011529784.1:c.520_522delinsCAT	XP_011528086.1:p.Gly174His
NM_001178008.2:c.835_837delinsCAT	NP_001171479.1:p.Gly279His
NM_001178009.2:c.835_837delinsCAT	NP_001171480.1:p.Gly279His
NM_001320298.1:c.835_837delinsCAT	NP_001307227.1:p.Gly279His
NM_001321072.1:c.520_522delinsCAT	NP_001308001.1:p.Gly174His
XM_011529774.2:c.886_888delinsCAT	XP_011528076.1:p.Gly296His
XM_011529777.2:c.835_837delinsCAT	XP_011528079.1:p.Gly279His
XM_011529783.2:c.520_522delinsCAT	XP_011528085.1:p.Gly174His
XM_017028491.2:c.835_837delinsCAT	XP_016883980.1:p.Gly279His
XM_024452136.1:c.886_888delinsCAT	XP_024307904.1:p.Gly296His
XM_024452137.1:c.886_888delinsCAT	XP_024307905.1:p.Gly296His
XM_024452138.1:c.520_522delinsCAT	XP_024307906.1:p.Gly174His
XM_024452139.1:c.520_522delinsCAT	XP_024307907.1:p.Gly174His
XM_024452140.1:c.520_522delinsCAT	XP_024307908.1:p.Gly174His
XR_001754915.1:n.1206_1208delinsCAT
XR_001754916.2:n.985_987delinsCAT
XR_001754917.2:n.985_987delinsCAT
XR_002958634.1:n.1806_1808delinsCAT
NM_000071.3:c.835_837delinsCAT MANE Select	NP_000062.1:p.Gly279His
NM_001178009.3:c.835_837delinsCAT	NP_001171480.1:p.Gly279His
NM_001178008.3:c.835_837delinsCAT	NP_001171479.1:p.Gly279His
NM_001320298.2:c.835_837delinsCAT	NP_001307227.1:p.Gly279His