Canonical Allele Identifier: CA10603779

Gene: CBS

Linked Data

• ClinVar Variation Id: 281010
• ClinVar RCV Id: RCV000279971 ; RCV000723446 ; RCV002229737
• dbSNP Id: rs779250698
• MyVariant Identifiers: chr21:g.43072166del (hg38)
• PubMed: PMID:11359213

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43072166del , CM000683.2:g.43072166del	GRCh38
NG_008938.1:g.8765del , LRG_777:g.8765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.28del MANE Select	ENSP00000381231.4:p.Val10TrpfsTer?
ENST00000352178.9:c.28del	ENSP00000344460.5:p.Val10TrpfsTer?
ENST00000359624.7:c.28del	ENSP00000352643.3:p.Val10TrpfsTer?
ENST00000398158.5:c.28del	ENSP00000381225.1:p.Val10TrpfsTer?
ENST00000398165.7:c.28del	ENSP00000381231.3:p.Val10TrpfsTer?
ENST00000441030.5:c.28del	ENSP00000388235.1:p.Val10TrpfsTer?
ENST00000465732.5:n.207del
ENST00000470912.5:n.288del
ENST00000488526.1:n.279del
NM_000071.2:c.28del , LRG_777t1:c.28del	NP_000062.1:p.Val10TrpfsTer?
NM_001178008.1:c.28del	NP_001171479.1:p.Val10TrpfsTer?
NM_001178009.1:c.28del	NP_001171480.1:p.Val10TrpfsTer?
XM_011529777.1:c.28del	XP_011528079.1:p.Val10TrpfsTer?
XM_011529778.1:c.28del	XP_011528080.1:p.Val10TrpfsTer?
XM_011529779.1:c.28del	XP_011528081.1:p.Val10TrpfsTer?
XM_011529781.1:c.28del	XP_011528083.1:p.Val10TrpfsTer?
XM_011529782.1:c.28del	XP_011528084.1:p.Val10TrpfsTer?
NM_001178008.2:c.28del	NP_001171479.1:p.Val10TrpfsTer?
NM_001178009.2:c.28del	NP_001171480.1:p.Val10TrpfsTer?
NM_001320298.1:c.28del	NP_001307227.1:p.Val10TrpfsTer?
XM_011529777.2:c.28del	XP_011528079.1:p.Val10TrpfsTer?
XM_017028491.2:c.28del	XP_016883980.1:p.Val10TrpfsTer?
XM_024452136.1:c.-741del	XP_024307904.1:n.-741del
XM_024452137.1:c.-741del	XP_024307905.1:n.-741del
XM_024452138.1:c.-1019del	XP_024307906.1:n.-1019del
XM_024452139.1:c.-1019del	XP_024307907.1:n.-1019del
XM_024452140.1:c.-1019del	XP_024307908.1:n.-1019del
XR_001754916.2:n.178del
XR_001754917.2:n.178del
XR_002958634.1:n.178del
NM_000071.3:c.28del MANE Select	NP_000062.1:p.Val10TrpfsTer?
NM_001178009.3:c.28del	NP_001171480.1:p.Val10TrpfsTer?
NM_001178008.3:c.28del	NP_001171479.1:p.Val10TrpfsTer?
NM_001320298.2:c.28del	NP_001307227.1:p.Val10TrpfsTer?