Canonical Allele Identifier: CA321689277

Gene: CBS

Linked Data

• dbSNP Id: rs779387250
• gnomAD v3: 21-43059962-AAC-A
• gnomAD v4: 21-43059962-AAC-A
• MyVariant Identifiers: chr21:g.43059963_43059964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43059964_43059965del , CM000683.2:g.43059964_43059965del	GRCh38
NG_008938.1:g.20967_20968del , LRG_777:g.20967_20968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1145+477_1145+478del MANE Select	ENSP00000381231.4:n.1145+477_1145+478del
ENST00000352178.9:c.1145+477_1145+478del	ENSP00000344460.5:n.1145+477_1145+478del
ENST00000359624.7:c.1145+477_1145+478del	ENSP00000352643.3:n.1145+477_1145+478del
ENST00000398158.5:c.1145+477_1145+478del	ENSP00000381225.1:n.1145+477_1145+478del
ENST00000398165.7:c.1145+477_1145+478del	ENSP00000381231.3:n.1145+477_1145+478del
ENST00000430013.1:c.106+477_106+478del
ENST00000461686.5:n.1456+477_1456+478del
ENST00000491776.1:n.80+477_80+478del
ENST00000496485.1:n.645+477_645+478del
NM_000071.2:c.1145+477_1145+478del , LRG_777t1:c.1145+477_1145+478del	NP_000062.1:n.1145+477_1145+478del
NM_001178008.1:c.1145+477_1145+478del	NP_001171479.1:n.1145+477_1145+478del
NM_001178009.1:c.1145+477_1145+478del	NP_001171480.1:n.1145+477_1145+478del
XM_011529773.1:c.1196+477_1196+478del	XP_011528075.1:n.1196+477_1196+478del
XM_011529774.1:c.1196+477_1196+478del	XP_011528076.1:n.1196+477_1196+478del
XM_011529775.1:c.1196+477_1196+478del	XP_011528077.1:n.1196+477_1196+478del
XM_011529776.1:c.1196+477_1196+478del	XP_011528078.1:n.1196+477_1196+478del
XM_011529777.1:c.1145+477_1145+478del	XP_011528079.1:n.1145+477_1145+478del
XM_011529778.1:c.1145+477_1145+478del	XP_011528080.1:n.1145+477_1145+478del
XM_011529779.1:c.1145+477_1145+478del	XP_011528081.1:n.1145+477_1145+478del
XM_011529781.1:c.1145+477_1145+478del	XP_011528083.1:n.1145+477_1145+478del
XM_011529782.1:c.1145+477_1145+478del	XP_011528084.1:n.1145+477_1145+478del
XM_011529783.1:c.830+477_830+478del	XP_011528085.1:n.830+477_830+478del
XM_011529784.1:c.830+477_830+478del	XP_011528086.1:n.830+477_830+478del
NM_001178008.2:c.1145+477_1145+478del	NP_001171479.1:n.1145+477_1145+478del
NM_001178009.2:c.1145+477_1145+478del	NP_001171480.1:n.1145+477_1145+478del
NM_001320298.1:c.1145+477_1145+478del	NP_001307227.1:n.1145+477_1145+478del
NM_001321072.1:c.830+477_830+478del	NP_001308001.1:n.830+477_830+478del
XM_011529774.2:c.1196+477_1196+478del	XP_011528076.1:n.1196+477_1196+478del
XM_011529777.2:c.1145+477_1145+478del	XP_011528079.1:n.1145+477_1145+478del
XM_011529783.2:c.830+477_830+478del	XP_011528085.1:n.830+477_830+478del
XM_017028491.2:c.1145+477_1145+478del	XP_016883980.1:n.1145+477_1145+478del
XM_024452136.1:c.1196+477_1196+478del	XP_024307904.1:n.1196+477_1196+478del
XM_024452137.1:c.1196+477_1196+478del	XP_024307905.1:n.1196+477_1196+478del
XM_024452138.1:c.830+477_830+478del	XP_024307906.1:n.830+477_830+478del
XM_024452139.1:c.830+477_830+478del	XP_024307907.1:n.830+477_830+478del
XM_024452140.1:c.830+477_830+478del	XP_024307908.1:n.830+477_830+478del
XR_001754915.1:n.1516+477_1516+478del
XR_001754916.2:n.1295+477_1295+478del
XR_001754917.2:n.1295+477_1295+478del
XR_002958634.1:n.2116+477_2116+478del
NM_000071.3:c.1145+477_1145+478del MANE Select	NP_000062.1:n.1145+477_1145+478del
NM_001178009.3:c.1145+477_1145+478del	NP_001171480.1:n.1145+477_1145+478del
NM_001178008.3:c.1145+477_1145+478del	NP_001171479.1:n.1145+477_1145+478del
NM_001320298.2:c.1145+477_1145+478del	NP_001307227.1:n.1145+477_1145+478del