Canonical Allele Identifier: CA2579805391

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43058215_43058216delinsTC , CM000683.2:g.43058215_43058216delinsTC	GRCh38
NG_008938.1:g.22715_22716delinsGA , LRG_777:g.22715_22716delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1396_1397delinsGA MANE Select	ENSP00000381231.4:p.Ser466Glu
ENST00000352178.9:c.1396_1397delinsGA	ENSP00000344460.5:p.Ser466Glu
ENST00000359624.7:c.1396_1397delinsGA	ENSP00000352643.3:p.Ser466Glu
ENST00000398158.5:c.1396_1397delinsGA	ENSP00000381225.1:p.Ser466Glu
ENST00000398165.7:c.1396_1397delinsGA	ENSP00000381231.3:p.Ser466Glu
ENST00000430013.1:c.357_358delinsGA
ENST00000451248.5:c.146_147delinsGA
ENST00000458223.5:c.159_160delinsGA
ENST00000461686.5:n.1707_1708delinsGA
ENST00000462349.5:n.687_688delinsGA
ENST00000491776.1:n.331_332delinsGA
NM_000071.2:c.1396_1397delinsGA , LRG_777t1:c.1396_1397delinsGA	NP_000062.1:p.Ser466Glu
NM_001178008.1:c.1396_1397delinsGA	NP_001171479.1:p.Ser466Glu
NM_001178009.1:c.1396_1397delinsGA	NP_001171480.1:p.Ser466Glu
XM_011529773.1:c.1447_1448delinsGA	XP_011528075.1:p.Ser483Glu
XM_011529774.1:c.1447_1448delinsGA	XP_011528076.1:p.Ser483Glu
XM_011529775.1:c.1447_1448delinsGA	XP_011528077.1:p.Ser483Glu
XM_011529776.1:c.1447_1448delinsGA	XP_011528078.1:p.Ser483Glu
XM_011529777.1:c.1396_1397delinsGA	XP_011528079.1:p.Ser466Glu
XM_011529778.1:c.1396_1397delinsGA	XP_011528080.1:p.Ser466Glu
XM_011529779.1:c.1396_1397delinsGA	XP_011528081.1:p.Ser466Glu
XM_011529781.1:c.1396_1397delinsGA	XP_011528083.1:p.Ser466Glu
XM_011529782.1:c.1396_1397delinsGA	XP_011528084.1:p.Ser466Glu
XM_011529783.1:c.1081_1082delinsGA	XP_011528085.1:p.Ser361Glu
XM_011529784.1:c.1081_1082delinsGA	XP_011528086.1:p.Ser361Glu
NM_001178008.2:c.1396_1397delinsGA	NP_001171479.1:p.Ser466Glu
NM_001178009.2:c.1396_1397delinsGA	NP_001171480.1:p.Ser466Glu
NM_001320298.1:c.1396_1397delinsGA	NP_001307227.1:p.Ser466Glu
NM_001321072.1:c.1081_1082delinsGA	NP_001308001.1:p.Ser361Glu
XM_011529774.2:c.1447_1448delinsGA	XP_011528076.1:p.Ser483Glu
XM_011529777.2:c.1396_1397delinsGA	XP_011528079.1:p.Ser466Glu
XM_011529783.2:c.1081_1082delinsGA	XP_011528085.1:p.Ser361Glu
XM_017028491.2:c.1396_1397delinsGA	XP_016883980.1:p.Ser466Glu
XM_024452136.1:c.1447_1448delinsGA	XP_024307904.1:p.Ser483Glu
XM_024452137.1:c.1447_1448delinsGA	XP_024307905.1:p.Ser483Glu
XM_024452138.1:c.1081_1082delinsGA	XP_024307906.1:p.Ser361Glu
XM_024452139.1:c.1081_1082delinsGA	XP_024307907.1:p.Ser361Glu
XM_024452140.1:c.1081_1082delinsGA	XP_024307908.1:p.Ser361Glu
XR_001754915.1:n.1846+75_1846+76delinsGA
XR_001754916.2:n.1700_1701delinsGA
XR_001754917.2:n.1700_1701delinsGA
XR_002958634.1:n.2446+75_2446+76delinsGA
NM_000071.3:c.1396_1397delinsGA MANE Select	NP_000062.1:p.Ser466Glu
NM_001178009.3:c.1396_1397delinsGA	NP_001171480.1:p.Ser466Glu
NM_001178008.3:c.1396_1397delinsGA	NP_001171479.1:p.Ser466Glu
NM_001320298.2:c.1396_1397delinsGA	NP_001307227.1:p.Ser466Glu