Canonical Allele Identifier: CA321091789

Gene: CBS

Linked Data

• dbSNP Id: rs761925861
• MyVariant Identifiers: chr21:g.43063126_43063127insGGGTGATCCACCCCAGTGATCTGCAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43063128_43063129insGTGATCCACCCCAGTGATCTGCAGAGGG , CM000683.2:g.43063128_43063129insGTGATCCACCCCAGTGATCTGCAGAGGG	GRCh38
NG_008938.1:g.17804_17805insCTCTGCAGATCACTGGGGTGGATCACCC , LRG_777:g.17804_17805insCTCTGCAGATCACTGGGGTGGATCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC MANE Select	ENSP00000381231.4:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCA...
ENST00000352178.9:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	ENSP00000344460.5:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCA...
ENST00000359624.7:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	ENSP00000352643.3:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCA...
ENST00000398158.5:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	ENSP00000381225.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCA...
ENST00000398165.7:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	ENSP00000381231.3:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCA...
ENST00000461686.5:n.1140-49_1140-48insCTCTGCAGATCACTGGGGTGGATCACCC
ENST00000486098.1:n.122_123insCTCTGCAGATCACTGGGGTGGATCACCC
ENST00000496485.1:n.329-49_329-48insCTCTGCAGATCACTGGGGTGGATCACCC
NM_000071.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC , LRG_777t1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_000062.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC
NM_001178008.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171479.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001178009.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171480.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529773.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528075.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529774.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528076.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529775.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528077.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529776.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528078.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529777.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528079.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529778.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528080.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529779.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528081.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529781.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528083.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529782.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528084.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529783.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528085.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529784.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528086.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001178008.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171479.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001178009.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171480.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001320298.1:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001307227.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001321072.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001308001.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529774.2:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528076.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529777.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528079.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_011529783.2:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_011528085.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_017028491.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_016883980.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_024452136.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_024307904.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_024452137.1:c.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_024307905.1:n.880-49_880-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_024452138.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_024307906.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_024452139.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_024307907.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XM_024452140.1:c.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC	XP_024307908.1:n.514-49_514-48insCTCTGCAGATCACTGGGGTGGATCACCC...
XR_001754915.1:n.1200-49_1200-48insCTCTGCAGATCACTGGGGTGGATCACCC
XR_001754916.2:n.979-49_979-48insCTCTGCAGATCACTGGGGTGGATCACCC
XR_001754917.2:n.979-49_979-48insCTCTGCAGATCACTGGGGTGGATCACCC
XR_002958634.1:n.1751_1752insCTCTGCAGATCACTGGGGTGGATCACCC
NM_000071.3:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC MANE Select	NP_000062.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC
NM_001178009.3:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171480.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001178008.3:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001171479.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...
NM_001320298.2:c.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC	NP_001307227.1:n.829-49_829-48insCTCTGCAGATCACTGGGGTGGATCACCC...