Canonical Allele Identifier: CA749576251

Gene: CBS

Linked Data

• ClinVar Variation Id: 1301253
• ClinVar RCV Id: RCV001733316
• dbSNP Id: rs1442787650
• MyVariant Identifiers: chr21:g.43053825_43053827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43053827_43053829del , CM000683.2:g.43053827_43053829del	GRCh38
NG_008938.1:g.27104_27106del , LRG_777:g.27104_27106del

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.*53_*55del MANE Select	ENSP00000381231.4:n.*53_*55del
ENST00000352178.9:c.*53_*55del	ENSP00000344460.5:n.*53_*55del
ENST00000359624.7:c.*18+35_*18+37del	ENSP00000352643.3:n.*18+35_*18+37del
ENST00000398158.5:c.*53_*55del	ENSP00000381225.1:n.*53_*55del
ENST00000398165.7:c.*53_*55del	ENSP00000381231.3:n.*53_*55del
ENST00000451248.5:c.501_503del
ENST00000461686.5:n.2020_2022del
ENST00000462349.5:n.1000_1002del
NM_000071.2:c.*53_*55del , LRG_777t1:c.*53_*55del	NP_000062.1:n.*53_*55del
NM_001178008.1:c.*53_*55del	NP_001171479.1:n.*53_*55del
NM_001178009.1:c.*18+35_*18+37del	NP_001171480.1:n.*18+35_*18+37del
XM_011529773.1:c.*53_*55del	XP_011528075.1:n.*53_*55del
XM_011529774.1:c.*18+35_*18+37del	XP_011528076.1:n.*18+35_*18+37del
XM_011529775.1:c.*53_*55del	XP_011528077.1:n.*53_*55del
XM_011529776.1:c.*18+35_*18+37del	XP_011528078.1:n.*18+35_*18+37del
XM_011529777.1:c.*53_*55del	XP_011528079.1:n.*53_*55del
XM_011529778.1:c.*53_*55del	XP_011528080.1:n.*53_*55del
XM_011529779.1:c.*53_*55del	XP_011528081.1:n.*53_*55del
XM_011529781.1:c.*53_*55del	XP_011528083.1:n.*53_*55del
XM_011529782.1:c.*53_*55del	XP_011528084.1:n.*53_*55del
XM_011529783.1:c.*53_*55del	XP_011528085.1:n.*53_*55del
XM_011529784.1:c.*53_*55del	XP_011528086.1:n.*53_*55del
NM_001178008.2:c.*53_*55del	NP_001171479.1:n.*53_*55del
NM_001178009.2:c.*18+35_*18+37del	NP_001171480.1:n.*18+35_*18+37del
NM_001320298.1:c.*53_*55del	NP_001307227.1:n.*53_*55del
NM_001321072.1:c.*53_*55del	NP_001308001.1:n.*53_*55del
XM_011529774.2:c.*18+35_*18+37del	XP_011528076.1:n.*18+35_*18+37del
XM_011529777.2:c.*53_*55del	XP_011528079.1:n.*53_*55del
XM_011529783.2:c.*53_*55del	XP_011528085.1:n.*53_*55del
XM_017028491.2:c.*18+35_*18+37del	XP_016883980.1:n.*18+35_*18+37del
XM_024452136.1:c.*53_*55del	XP_024307904.1:n.*53_*55del
XM_024452137.1:c.*18+35_*18+37del	XP_024307905.1:n.*18+35_*18+37del
XM_024452138.1:c.*53_*55del	XP_024307906.1:n.*53_*55del
XM_024452139.1:c.*53_*55del	XP_024307907.1:n.*53_*55del
XM_024452140.1:c.*18+35_*18+37del	XP_024307908.1:n.*18+35_*18+37del
XR_001754915.1:n.2088_2090del
XR_001754916.2:n.1978+35_1978+37del
XR_002958634.1:n.2688_2690del
NM_000071.3:c.*53_*55del MANE Select	NP_000062.1:n.*53_*55del
NM_001178009.3:c.*18+35_*18+37del	NP_001171480.1:n.*18+35_*18+37del
NM_001178008.3:c.*53_*55del	NP_001171479.1:n.*53_*55del
NM_001320298.2:c.*53_*55del	NP_001307227.1:n.*53_*55del