Canonical Allele Identifier: CA2391104987

Gene: CBS

Linked Data

• dbSNP Id: rs1323409352
• gnomAD v4: 21-43068444-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068450dup , CM000683.2:g.43068450dup	GRCh38
NG_008938.1:g.12486dup , LRG_777:g.12486dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.316+64dup MANE Select	ENSP00000381231.4:n.316+64dup
ENST00000352178.9:c.316+64dup	ENSP00000344460.5:n.316+64dup
ENST00000359624.7:c.316+64dup	ENSP00000352643.3:n.316+64dup
ENST00000398158.5:c.316+64dup	ENSP00000381225.1:n.316+64dup
ENST00000398165.7:c.316+64dup	ENSP00000381231.3:n.316+64dup
ENST00000441030.5:c.316+64dup	ENSP00000388235.1:n.316+64dup
ENST00000465732.5:n.559dup
ENST00000470912.5:n.576+64dup
ENST00000488526.1:n.631dup
NM_000071.2:c.316+64dup , LRG_777t1:c.316+64dup	NP_000062.1:n.316+64dup
NM_001178008.1:c.316+64dup	NP_001171479.1:n.316+64dup
NM_001178009.1:c.316+64dup	NP_001171480.1:n.316+64dup
XM_011529777.1:c.316+64dup	XP_011528079.1:n.316+64dup
XM_011529778.1:c.316+64dup	XP_011528080.1:n.316+64dup
XM_011529779.1:c.316+64dup	XP_011528081.1:n.316+64dup
XM_011529781.1:c.316+64dup	XP_011528083.1:n.316+64dup
XM_011529782.1:c.316+64dup	XP_011528084.1:n.316+64dup
NM_001178008.2:c.316+64dup	NP_001171479.1:n.316+64dup
NM_001178009.2:c.316+64dup	NP_001171480.1:n.316+64dup
NM_001320298.1:c.316+64dup	NP_001307227.1:n.316+64dup
XM_011529777.2:c.316+64dup	XP_011528079.1:n.316+64dup
XM_017028491.2:c.316+64dup	XP_016883980.1:n.316+64dup
XM_024452136.1:c.-389dup	XP_024307904.1:n.-389dup
XM_024452137.1:c.-389dup	XP_024307905.1:n.-389dup
XM_024452138.1:c.-667dup	XP_024307906.1:n.-667dup
XM_024452139.1:c.-667dup	XP_024307907.1:n.-667dup
XM_024452140.1:c.-667dup	XP_024307908.1:n.-667dup
XR_001754916.2:n.466+64dup
XR_001754917.2:n.466+64dup
XR_002958634.1:n.466+64dup
NM_000071.3:c.316+64dup MANE Select	NP_000062.1:n.316+64dup
NM_001178009.3:c.316+64dup	NP_001171480.1:n.316+64dup
NM_001178008.3:c.316+64dup	NP_001171479.1:n.316+64dup
NM_001320298.2:c.316+64dup	NP_001307227.1:n.316+64dup