Canonical Allele Identifier: CA2579803342

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43058848_43058850delinsAAG , CM000683.2:g.43058848_43058850delinsAAG	GRCh38
NG_008938.1:g.22081_22083delinsCTT , LRG_777:g.22081_22083delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.1342_1344delinsCTT MANE Select	ENSP00000381231.4:p.Val448Leu
ENST00000352178.9:c.1342_1344delinsCTT	ENSP00000344460.5:p.Val448Leu
ENST00000359624.7:c.1342_1344delinsCTT	ENSP00000352643.3:p.Val448Leu
ENST00000398158.5:c.1342_1344delinsCTT	ENSP00000381225.1:p.Val448Leu
ENST00000398165.7:c.1342_1344delinsCTT	ENSP00000381231.3:p.Val448Leu
ENST00000430013.1:c.303_305delinsCTT
ENST00000451248.5:c.92_94delinsCTT
ENST00000458223.5:c.105_107delinsCTT
ENST00000461686.5:n.1653_1655delinsCTT
ENST00000462349.5:n.633_635delinsCTT
ENST00000491776.1:n.277_279delinsCTT
NM_000071.2:c.1342_1344delinsCTT , LRG_777t1:c.1342_1344delinsCTT	NP_000062.1:p.Val448Leu
NM_001178008.1:c.1342_1344delinsCTT	NP_001171479.1:p.Val448Leu
NM_001178009.1:c.1342_1344delinsCTT	NP_001171480.1:p.Val448Leu
XM_011529773.1:c.1393_1395delinsCTT	XP_011528075.1:p.Val465Leu
XM_011529774.1:c.1393_1395delinsCTT	XP_011528076.1:p.Val465Leu
XM_011529775.1:c.1393_1395delinsCTT	XP_011528077.1:p.Val465Leu
XM_011529776.1:c.1393_1395delinsCTT	XP_011528078.1:p.Val465Leu
XM_011529777.1:c.1342_1344delinsCTT	XP_011528079.1:p.Val448Leu
XM_011529778.1:c.1342_1344delinsCTT	XP_011528080.1:p.Val448Leu
XM_011529779.1:c.1342_1344delinsCTT	XP_011528081.1:p.Val448Leu
XM_011529781.1:c.1342_1344delinsCTT	XP_011528083.1:p.Val448Leu
XM_011529782.1:c.1342_1344delinsCTT	XP_011528084.1:p.Val448Leu
XM_011529783.1:c.1027_1029delinsCTT	XP_011528085.1:p.Val343Leu
XM_011529784.1:c.1027_1029delinsCTT	XP_011528086.1:p.Val343Leu
NM_001178008.2:c.1342_1344delinsCTT	NP_001171479.1:p.Val448Leu
NM_001178009.2:c.1342_1344delinsCTT	NP_001171480.1:p.Val448Leu
NM_001320298.1:c.1342_1344delinsCTT	NP_001307227.1:p.Val448Leu
NM_001321072.1:c.1027_1029delinsCTT	NP_001308001.1:p.Val343Leu
XM_011529774.2:c.1393_1395delinsCTT	XP_011528076.1:p.Val465Leu
XM_011529777.2:c.1342_1344delinsCTT	XP_011528079.1:p.Val448Leu
XM_011529783.2:c.1027_1029delinsCTT	XP_011528085.1:p.Val343Leu
XM_017028491.2:c.1342_1344delinsCTT	XP_016883980.1:p.Val448Leu
XM_024452136.1:c.1393_1395delinsCTT	XP_024307904.1:p.Val465Leu
XM_024452137.1:c.1393_1395delinsCTT	XP_024307905.1:p.Val465Leu
XM_024452138.1:c.1027_1029delinsCTT	XP_024307906.1:p.Val343Leu
XM_024452139.1:c.1027_1029delinsCTT	XP_024307907.1:p.Val343Leu
XM_024452140.1:c.1027_1029delinsCTT	XP_024307908.1:p.Val343Leu
XR_001754915.1:n.1713_1715delinsCTT
XR_001754916.2:n.1492_1494delinsCTT
XR_001754917.2:n.1492_1494delinsCTT
XR_002958634.1:n.2313_2315delinsCTT
NM_000071.3:c.1342_1344delinsCTT MANE Select	NP_000062.1:p.Val448Leu
NM_001178009.3:c.1342_1344delinsCTT	NP_001171480.1:p.Val448Leu
NM_001178008.3:c.1342_1344delinsCTT	NP_001171479.1:p.Val448Leu
NM_001320298.2:c.1342_1344delinsCTT	NP_001307227.1:p.Val448Leu