Canonical Allele Identifier: CA3028457339
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43056803_43056804del , CM000683.2:g.43056803_43056804del GRCh38
NG_008938.1:g.24130_24131del , LRG_777:g.24130_24131del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.1552+2_1552+3del
ENST00000352178.9:c.1552+2_1552+3del
ENST00000359624.7:c.1552+2_1552+3del
ENST00000398158.5:c.1552+2_1552+3del
ENST00000398165.7:c.1552+2_1552+3del
ENST00000430013.1:c.513+2_513+3del
ENST00000451248.5:c.302+2_302+3del
ENST00000458223.5:c.315+2_315+3del
ENST00000461686.5:n.1863+2_1863+3del
ENST00000462349.5:n.843+2_843+3del
ENST00000491776.1:n.487+2_487+3del
NM_000071.2:c.1552+2_1552+3del , LRG_777t1:c.1552+2_1552+3del
NM_001178008.1:c.1552+2_1552+3del
NM_001178009.1:c.1552+2_1552+3del
XM_011529773.1:c.1603+2_1603+3del
XM_011529774.1:c.1603+2_1603+3del
XM_011529775.1:c.1603+2_1603+3del
XM_011529776.1:c.1603+2_1603+3del
XM_011529777.1:c.1552+2_1552+3del
XM_011529778.1:c.1552+2_1552+3del
XM_011529779.1:c.1552+2_1552+3del
XM_011529781.1:c.1552+2_1552+3del
XM_011529782.1:c.1552+2_1552+3del
XM_011529783.1:c.1237+2_1237+3del
XM_011529784.1:c.1237+2_1237+3del
NM_001178008.2:c.1552+2_1552+3del
NM_001178009.2:c.1552+2_1552+3del
NM_001320298.1:c.1552+2_1552+3del
NM_001321072.1:c.1237+2_1237+3del
XM_011529774.2:c.1603+2_1603+3del
XM_011529777.2:c.1552+2_1552+3del
XM_011529783.2:c.1237+2_1237+3del
XM_017028491.2:c.1552+2_1552+3del
XM_024452136.1:c.1603+2_1603+3del
XM_024452137.1:c.1603+2_1603+3del
XM_024452138.1:c.1237+2_1237+3del
XM_024452139.1:c.1237+2_1237+3del
XM_024452140.1:c.1237+2_1237+3del
XR_001754915.1:n.1931+2_1931+3del
XR_001754916.2:n.1856+2_1856+3del
XR_001754917.2:n.1856+2_1856+3del
XR_002958634.1:n.2531+2_2531+3del
NM_000071.3:c.1552+2_1552+3del
NM_001178009.3:c.1552+2_1552+3del
NM_001178008.3:c.1552+2_1552+3del
NM_001320298.2:c.1552+2_1552+3del