Canonical Allele Identifier: CA2579807344

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43058941_43058943delinsAAC , CM000683.2:g.43058941_43058943delinsAAC	GRCh38
NG_008938.1:g.21988_21990delinsGTT , LRG_777:g.21988_21990delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.1249_1251delinsGTT MANE Select	ENSP00000381231.4:p.Leu417Val
ENST00000352178.9:c.1249_1251delinsGTT	ENSP00000344460.5:p.Leu417Val
ENST00000359624.7:c.1249_1251delinsGTT	ENSP00000352643.3:p.Leu417Val
ENST00000398158.5:c.1249_1251delinsGTT	ENSP00000381225.1:p.Leu417Val
ENST00000398165.7:c.1249_1251delinsGTT	ENSP00000381231.3:p.Leu417Val
ENST00000430013.1:c.210_212delinsGTT
ENST00000458223.5:c.12_14delinsGTT
ENST00000461686.5:n.1560_1562delinsGTT
ENST00000462349.5:n.540_542delinsGTT
ENST00000491776.1:n.184_186delinsGTT
NM_000071.2:c.1249_1251delinsGTT , LRG_777t1:c.1249_1251delinsGTT	NP_000062.1:p.Leu417Val
NM_001178008.1:c.1249_1251delinsGTT	NP_001171479.1:p.Leu417Val
NM_001178009.1:c.1249_1251delinsGTT	NP_001171480.1:p.Leu417Val
XM_011529773.1:c.1300_1302delinsGTT	XP_011528075.1:p.Leu434Val
XM_011529774.1:c.1300_1302delinsGTT	XP_011528076.1:p.Leu434Val
XM_011529775.1:c.1300_1302delinsGTT	XP_011528077.1:p.Leu434Val
XM_011529776.1:c.1300_1302delinsGTT	XP_011528078.1:p.Leu434Val
XM_011529777.1:c.1249_1251delinsGTT	XP_011528079.1:p.Leu417Val
XM_011529778.1:c.1249_1251delinsGTT	XP_011528080.1:p.Leu417Val
XM_011529779.1:c.1249_1251delinsGTT	XP_011528081.1:p.Leu417Val
XM_011529781.1:c.1249_1251delinsGTT	XP_011528083.1:p.Leu417Val
XM_011529782.1:c.1249_1251delinsGTT	XP_011528084.1:p.Leu417Val
XM_011529783.1:c.934_936delinsGTT	XP_011528085.1:p.Leu312Val
XM_011529784.1:c.934_936delinsGTT	XP_011528086.1:p.Leu312Val
NM_001178008.2:c.1249_1251delinsGTT	NP_001171479.1:p.Leu417Val
NM_001178009.2:c.1249_1251delinsGTT	NP_001171480.1:p.Leu417Val
NM_001320298.1:c.1249_1251delinsGTT	NP_001307227.1:p.Leu417Val
NM_001321072.1:c.934_936delinsGTT	NP_001308001.1:p.Leu312Val
XM_011529774.2:c.1300_1302delinsGTT	XP_011528076.1:p.Leu434Val
XM_011529777.2:c.1249_1251delinsGTT	XP_011528079.1:p.Leu417Val
XM_011529783.2:c.934_936delinsGTT	XP_011528085.1:p.Leu312Val
XM_017028491.2:c.1249_1251delinsGTT	XP_016883980.1:p.Leu417Val
XM_024452136.1:c.1300_1302delinsGTT	XP_024307904.1:p.Leu434Val
XM_024452137.1:c.1300_1302delinsGTT	XP_024307905.1:p.Leu434Val
XM_024452138.1:c.934_936delinsGTT	XP_024307906.1:p.Leu312Val
XM_024452139.1:c.934_936delinsGTT	XP_024307907.1:p.Leu312Val
XM_024452140.1:c.934_936delinsGTT	XP_024307908.1:p.Leu312Val
XR_001754915.1:n.1620_1622delinsGTT
XR_001754916.2:n.1399_1401delinsGTT
XR_001754917.2:n.1399_1401delinsGTT
XR_002958634.1:n.2220_2222delinsGTT
NM_000071.3:c.1249_1251delinsGTT MANE Select	NP_000062.1:p.Leu417Val
NM_001178009.3:c.1249_1251delinsGTT	NP_001171480.1:p.Leu417Val
NM_001178008.3:c.1249_1251delinsGTT	NP_001171479.1:p.Leu417Val
NM_001320298.2:c.1249_1251delinsGTT	NP_001307227.1:p.Leu417Val