Canonical Allele Identifier: CA749581023

Gene: CBS

Linked Data

• dbSNP Id: rs1307881395
• gnomAD v4: 21-43068710-CT-C
• MyVariant Identifiers: chr21:g.43068711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068711del , CM000683.2:g.43068711del	GRCh38
NG_008938.1:g.12220del , LRG_777:g.12220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.210-96del MANE Select	ENSP00000381231.4:n.210-96del
ENST00000352178.9:c.210-96del	ENSP00000344460.5:n.210-96del
ENST00000359624.7:c.210-96del	ENSP00000352643.3:n.210-96del
ENST00000398158.5:c.210-96del	ENSP00000381225.1:n.210-96del
ENST00000398165.7:c.210-96del	ENSP00000381231.3:n.210-96del
ENST00000441030.5:c.210-96del	ENSP00000388235.1:n.210-96del
ENST00000465732.5:n.389-96del
ENST00000470912.5:n.470-96del
ENST00000488526.1:n.461-96del
NM_000071.2:c.210-96del , LRG_777t1:c.210-96del	NP_000062.1:n.210-96del
NM_001178008.1:c.210-96del	NP_001171479.1:n.210-96del
NM_001178009.1:c.210-96del	NP_001171480.1:n.210-96del
XM_011529777.1:c.210-96del	XP_011528079.1:n.210-96del
XM_011529778.1:c.210-96del	XP_011528080.1:n.210-96del
XM_011529779.1:c.210-96del	XP_011528081.1:n.210-96del
XM_011529781.1:c.210-96del	XP_011528083.1:n.210-96del
XM_011529782.1:c.210-96del	XP_011528084.1:n.210-96del
NM_001178008.2:c.210-96del	NP_001171479.1:n.210-96del
NM_001178009.2:c.210-96del	NP_001171480.1:n.210-96del
NM_001320298.1:c.210-96del	NP_001307227.1:n.210-96del
XM_011529777.2:c.210-96del	XP_011528079.1:n.210-96del
XM_017028491.2:c.210-96del	XP_016883980.1:n.210-96del
XM_024452136.1:c.-559-96del	XP_024307904.1:n.-559-96del
XM_024452137.1:c.-559-96del	XP_024307905.1:n.-559-96del
XM_024452138.1:c.-837-96del	XP_024307906.1:n.-837-96del
XM_024452139.1:c.-837-96del	XP_024307907.1:n.-837-96del
XM_024452140.1:c.-837-96del	XP_024307908.1:n.-837-96del
XR_001754916.2:n.360-96del
XR_001754917.2:n.360-96del
XR_002958634.1:n.360-96del
NM_000071.3:c.210-96del MANE Select	NP_000062.1:n.210-96del
NM_001178009.3:c.210-96del	NP_001171480.1:n.210-96del
NM_001178008.3:c.210-96del	NP_001171479.1:n.210-96del
NM_001320298.2:c.210-96del	NP_001307227.1:n.210-96del