Canonical Allele Identifier: CA2499225923

Gene: CBS

Linked Data

• ClinVar Variation Id: 1164756
• ClinVar RCV Id: RCV002241049
• dbSNP Id: rs2146367577

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43063073_43063074insGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCA , CM000683.2:g.43063073_43063074insGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCA	GRCh38
NG_008938.1:g.17868_17869insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC , LRG_777:g.17868_17869insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC MANE Select	ENSP00000381231.4:p.Pro282HisfsTer12
ENST00000352178.9:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	ENSP00000344460.5:p.Pro282HisfsTer12
ENST00000359624.7:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	ENSP00000352643.3:p.Pro282HisfsTer12
ENST00000398158.5:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	ENSP00000381225.1:p.Pro282HisfsTer12
ENST00000398165.7:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	ENSP00000381231.3:p.Pro282HisfsTer12
ENST00000461686.5:n.1155_1156insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
ENST00000486098.1:n.186_187insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
ENST00000496485.1:n.344_345insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
NM_000071.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC , LRG_777t1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_000062.1:p.Pro282HisfsTer12
NM_001178008.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171479.1:p.Pro282HisfsTer12
NM_001178009.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171480.1:p.Pro282HisfsTer12
XM_011529773.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528075.1:p.Pro299HisfsTer12
XM_011529774.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528076.1:p.Pro299HisfsTer12
XM_011529775.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528077.1:p.Pro299HisfsTer12
XM_011529776.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528078.1:p.Pro299HisfsTer12
XM_011529777.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528079.1:p.Pro282HisfsTer12
XM_011529778.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528080.1:p.Pro282HisfsTer12
XM_011529779.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528081.1:p.Pro282HisfsTer12
XM_011529781.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528083.1:p.Pro282HisfsTer12
XM_011529782.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528084.1:p.Pro282HisfsTer12
XM_011529783.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528085.1:p.Pro177HisfsTer12
XM_011529784.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528086.1:p.Pro177HisfsTer12
NM_001178008.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171479.1:p.Pro282HisfsTer12
NM_001178009.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171480.1:p.Pro282HisfsTer12
NM_001320298.1:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001307227.1:p.Pro282HisfsTer12
NM_001321072.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001308001.1:p.Pro177HisfsTer12
XM_011529774.2:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528076.1:p.Pro299HisfsTer12
XM_011529777.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528079.1:p.Pro282HisfsTer12
XM_011529783.2:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_011528085.1:p.Pro177HisfsTer12
XM_017028491.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_016883980.1:p.Pro282HisfsTer12
XM_024452136.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_024307904.1:p.Pro299HisfsTer12
XM_024452137.1:c.895_896insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_024307905.1:p.Pro299HisfsTer12
XM_024452138.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_024307906.1:p.Pro177HisfsTer12
XM_024452139.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_024307907.1:p.Pro177HisfsTer12
XM_024452140.1:c.529_530insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	XP_024307908.1:p.Pro177HisfsTer12
XR_001754915.1:n.1215_1216insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
XR_001754916.2:n.994_995insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
XR_001754917.2:n.994_995insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
XR_002958634.1:n.1815_1816insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC
NM_000071.3:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC MANE Select	NP_000062.1:p.Pro282HisfsTer12
NM_001178009.3:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171480.1:p.Pro282HisfsTer12
NM_001178008.3:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001171479.1:p.Pro282HisfsTer12
NM_001320298.2:c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC	NP_001307227.1:p.Pro282HisfsTer12