Canonical Allele Identifier: CA321098107

Gene: CBS

Linked Data

• dbSNP Id: rs947216476
• gnomAD v3: 21-43066532-ACACCTG-A
• gnomAD v4: 21-43066532-ACACCTG-A
• MyVariant Identifiers: chr21:g.43066533_43066538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43066539_43066544del , CM000683.2:g.43066539_43066544del	GRCh38
NG_008938.1:g.14393_14398del , LRG_777:g.14393_14398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.317-161_317-156del MANE Select	ENSP00000381231.4:n.317-161_317-156del
ENST00000352178.9:c.317-161_317-156del	ENSP00000344460.5:n.317-161_317-156del
ENST00000359624.7:c.317-161_317-156del	ENSP00000352643.3:n.317-161_317-156del
ENST00000398158.5:c.317-161_317-156del	ENSP00000381225.1:n.317-161_317-156del
ENST00000398165.7:c.317-161_317-156del	ENSP00000381231.3:n.317-161_317-156del
ENST00000441030.5:c.317-161_317-156del	ENSP00000388235.1:n.317-161_317-156del
ENST00000461686.5:n.628-161_628-156del
ENST00000470912.5:n.760-161_760-156del
NM_000071.2:c.317-161_317-156del , LRG_777t1:c.317-161_317-156del	NP_000062.1:n.317-161_317-156del
NM_001178008.1:c.317-161_317-156del	NP_001171479.1:n.317-161_317-156del
NM_001178009.1:c.317-161_317-156del	NP_001171480.1:n.317-161_317-156del
XM_011529773.1:c.354_359del	XP_011528075.1:p.Arg119_Cys120del
XM_011529774.1:c.354_359del	XP_011528076.1:p.Arg119_Cys120del
XM_011529775.1:c.354_359del	XP_011528077.1:p.Arg119_Cys120del
XM_011529776.1:c.354_359del	XP_011528078.1:p.Arg119_Cys120del
XM_011529777.1:c.317-161_317-156del	XP_011528079.1:n.317-161_317-156del
XM_011529778.1:c.317-161_317-156del	XP_011528080.1:n.317-161_317-156del
XM_011529779.1:c.317-161_317-156del	XP_011528081.1:n.317-161_317-156del
XM_011529781.1:c.317-161_317-156del	XP_011528083.1:n.317-161_317-156del
XM_011529782.1:c.317-161_317-156del	XP_011528084.1:n.317-161_317-156del
XM_011529783.1:c.2-161_2-156del	XP_011528085.1:n.2-161_2-156del
XM_011529784.1:c.2-161_2-156del	XP_011528086.1:n.2-161_2-156del
NM_001178008.2:c.317-161_317-156del	NP_001171479.1:n.317-161_317-156del
NM_001178009.2:c.317-161_317-156del	NP_001171480.1:n.317-161_317-156del
NM_001320298.1:c.317-161_317-156del	NP_001307227.1:n.317-161_317-156del
NM_001321072.1:c.2-161_2-156del	NP_001308001.1:n.2-161_2-156del
XM_011529774.2:c.354_359del	XP_011528076.1:p.Arg119_Cys120del
XM_011529777.2:c.317-161_317-156del	XP_011528079.1:n.317-161_317-156del
XM_011529783.2:c.2-161_2-156del	XP_011528085.1:n.2-161_2-156del
XM_017028491.2:c.317-161_317-156del	XP_016883980.1:n.317-161_317-156del
XM_024452136.1:c.354_359del	XP_024307904.1:p.Arg119_Cys120del
XM_024452137.1:c.354_359del	XP_024307905.1:p.Arg119_Cys120del
XM_024452138.1:c.2-161_2-156del	XP_024307906.1:n.2-161_2-156del
XM_024452139.1:c.2-161_2-156del	XP_024307907.1:n.2-161_2-156del
XM_024452140.1:c.2-161_2-156del	XP_024307908.1:n.2-161_2-156del
XR_001754915.1:n.674_679del
XR_001754916.2:n.467-161_467-156del
XR_001754917.2:n.467-161_467-156del
XR_002958634.1:n.467-161_467-156del
NM_000071.3:c.317-161_317-156del MANE Select	NP_000062.1:n.317-161_317-156del
NM_001178009.3:c.317-161_317-156del	NP_001171480.1:n.317-161_317-156del
NM_001178008.3:c.317-161_317-156del	NP_001171479.1:n.317-161_317-156del
NM_001320298.2:c.317-161_317-156del	NP_001307227.1:n.317-161_317-156del