Canonical Allele Identifier: CA2579811891
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43056882_43056884delinsAGA , CM000683.2:g.43056882_43056884delinsAGA GRCh38
NG_008938.1:g.24047_24049delinsTCT , LRG_777:g.24047_24049delinsTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.1471_1473delinsTCT MANE Select ENSP00000381231.4:p.Arg491Ser
ENST00000352178.9:c.1471_1473delinsTCT ENSP00000344460.5:p.Arg491Ser
ENST00000359624.7:c.1471_1473delinsTCT ENSP00000352643.3:p.Arg491Ser
ENST00000398158.5:c.1471_1473delinsTCT ENSP00000381225.1:p.Arg491Ser
ENST00000398165.7:c.1471_1473delinsTCT ENSP00000381231.3:p.Arg491Ser
ENST00000430013.1:c.432_434delinsTCT
ENST00000451248.5:c.221_223delinsTCT
ENST00000458223.5:c.234_236delinsTCT
ENST00000461686.5:n.1782_1784delinsTCT
ENST00000462349.5:n.762_764delinsTCT
ENST00000491776.1:n.406_408delinsTCT
NM_000071.2:c.1471_1473delinsTCT , LRG_777t1:c.1471_1473delinsTCT NP_000062.1:p.Arg491Ser
NM_001178008.1:c.1471_1473delinsTCT NP_001171479.1:p.Arg491Ser
NM_001178009.1:c.1471_1473delinsTCT NP_001171480.1:p.Arg491Ser
XM_011529773.1:c.1522_1524delinsTCT XP_011528075.1:p.Arg508Ser
XM_011529774.1:c.1522_1524delinsTCT XP_011528076.1:p.Arg508Ser
XM_011529775.1:c.1522_1524delinsTCT XP_011528077.1:p.Arg508Ser
XM_011529776.1:c.1522_1524delinsTCT XP_011528078.1:p.Arg508Ser
XM_011529777.1:c.1471_1473delinsTCT XP_011528079.1:p.Arg491Ser
XM_011529778.1:c.1471_1473delinsTCT XP_011528080.1:p.Arg491Ser
XM_011529779.1:c.1471_1473delinsTCT XP_011528081.1:p.Arg491Ser
XM_011529781.1:c.1471_1473delinsTCT XP_011528083.1:p.Arg491Ser
XM_011529782.1:c.1471_1473delinsTCT XP_011528084.1:p.Arg491Ser
XM_011529783.1:c.1156_1158delinsTCT XP_011528085.1:p.Arg386Ser
XM_011529784.1:c.1156_1158delinsTCT XP_011528086.1:p.Arg386Ser
NM_001178008.2:c.1471_1473delinsTCT NP_001171479.1:p.Arg491Ser
NM_001178009.2:c.1471_1473delinsTCT NP_001171480.1:p.Arg491Ser
NM_001320298.1:c.1471_1473delinsTCT NP_001307227.1:p.Arg491Ser
NM_001321072.1:c.1156_1158delinsTCT NP_001308001.1:p.Arg386Ser
XM_011529774.2:c.1522_1524delinsTCT XP_011528076.1:p.Arg508Ser
XM_011529777.2:c.1471_1473delinsTCT XP_011528079.1:p.Arg491Ser
XM_011529783.2:c.1156_1158delinsTCT XP_011528085.1:p.Arg386Ser
XM_017028491.2:c.1471_1473delinsTCT XP_016883980.1:p.Arg491Ser
XM_024452136.1:c.1522_1524delinsTCT XP_024307904.1:p.Arg508Ser
XM_024452137.1:c.1522_1524delinsTCT XP_024307905.1:p.Arg508Ser
XM_024452138.1:c.1156_1158delinsTCT XP_024307906.1:p.Arg386Ser
XM_024452139.1:c.1156_1158delinsTCT XP_024307907.1:p.Arg386Ser
XM_024452140.1:c.1156_1158delinsTCT XP_024307908.1:p.Arg386Ser
XR_001754915.1:n.1850_1852delinsTCT
XR_001754916.2:n.1775_1777delinsTCT
XR_001754917.2:n.1775_1777delinsTCT
XR_002958634.1:n.2450_2452delinsTCT
NM_000071.3:c.1471_1473delinsTCT MANE Select NP_000062.1:p.Arg491Ser
NM_001178009.3:c.1471_1473delinsTCT NP_001171480.1:p.Arg491Ser
NM_001178008.3:c.1471_1473delinsTCT NP_001171479.1:p.Arg491Ser
NM_001320298.2:c.1471_1473delinsTCT NP_001307227.1:p.Arg491Ser