Canonical Allele Identifier: CA2579803384

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43056802_43056803delinsGT , CM000683.2:g.43056802_43056803delinsGT	GRCh38
NG_008938.1:g.24128_24129delinsAC , LRG_777:g.24128_24129delinsAC

Transcript Alleles

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