Canonical Allele Identifier: CA2579808333

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068541_43068542delinsGC , CM000683.2:g.43068541_43068542delinsGC	GRCh38
NG_008938.1:g.12389_12390delinsGC , LRG_777:g.12389_12390delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.283_284delinsGC MANE Select	ENSP00000381231.4:p.Ile95Ala
ENST00000352178.9:c.283_284delinsGC	ENSP00000344460.5:p.Ile95Ala
ENST00000359624.7:c.283_284delinsGC	ENSP00000352643.3:p.Ile95Ala
ENST00000398158.5:c.283_284delinsGC	ENSP00000381225.1:p.Ile95Ala
ENST00000398165.7:c.283_284delinsGC	ENSP00000381231.3:p.Ile95Ala
ENST00000441030.5:c.283_284delinsGC	ENSP00000388235.1:p.Ile95Ala
ENST00000465732.5:n.462_463delinsGC
ENST00000470912.5:n.543_544delinsGC
ENST00000488526.1:n.534_535delinsGC
NM_000071.2:c.283_284delinsGC , LRG_777t1:c.283_284delinsGC	NP_000062.1:p.Ile95Ala
NM_001178008.1:c.283_284delinsGC	NP_001171479.1:p.Ile95Ala
NM_001178009.1:c.283_284delinsGC	NP_001171480.1:p.Ile95Ala
XM_011529777.1:c.283_284delinsGC	XP_011528079.1:p.Ile95Ala
XM_011529778.1:c.283_284delinsGC	XP_011528080.1:p.Ile95Ala
XM_011529779.1:c.283_284delinsGC	XP_011528081.1:p.Ile95Ala
XM_011529781.1:c.283_284delinsGC	XP_011528083.1:p.Ile95Ala
XM_011529782.1:c.283_284delinsGC	XP_011528084.1:p.Ile95Ala
NM_001178008.2:c.283_284delinsGC	NP_001171479.1:p.Ile95Ala
NM_001178009.2:c.283_284delinsGC	NP_001171480.1:p.Ile95Ala
NM_001320298.1:c.283_284delinsGC	NP_001307227.1:p.Ile95Ala
XM_011529777.2:c.283_284delinsGC	XP_011528079.1:p.Ile95Ala
XM_017028491.2:c.283_284delinsGC	XP_016883980.1:p.Ile95Ala
XM_024452136.1:c.-486_-485delinsGC	XP_024307904.1:n.-486_-485delinsGC
XM_024452137.1:c.-486_-485delinsGC	XP_024307905.1:n.-486_-485delinsGC
XM_024452138.1:c.-764_-763delinsGC	XP_024307906.1:n.-764_-763delinsGC
XM_024452139.1:c.-764_-763delinsGC	XP_024307907.1:n.-764_-763delinsGC
XM_024452140.1:c.-764_-763delinsGC	XP_024307908.1:n.-764_-763delinsGC
XR_001754916.2:n.433_434delinsGC
XR_001754917.2:n.433_434delinsGC
XR_002958634.1:n.433_434delinsGC
NM_000071.3:c.283_284delinsGC MANE Select	NP_000062.1:p.Ile95Ala
NM_001178009.3:c.283_284delinsGC	NP_001171480.1:p.Ile95Ala
NM_001178008.3:c.283_284delinsGC	NP_001171479.1:p.Ile95Ala
NM_001320298.2:c.283_284delinsGC	NP_001307227.1:p.Ile95Ala