Canonical Allele Identifier: CA2579808422
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43056807_43056808delinsAT , CM000683.2:g.43056807_43056808delinsAT GRCh38
NG_008938.1:g.24123_24124delinsAT , LRG_777:g.24123_24124delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.1547_1548delinsAT MANE Select ENSP00000381231.4:p.Ile516Asn
ENST00000352178.9:c.1547_1548delinsAT ENSP00000344460.5:p.Ile516Asn
ENST00000359624.7:c.1547_1548delinsAT ENSP00000352643.3:p.Ile516Asn
ENST00000398158.5:c.1547_1548delinsAT ENSP00000381225.1:p.Ile516Asn
ENST00000398165.7:c.1547_1548delinsAT ENSP00000381231.3:p.Ile516Asn
ENST00000430013.1:c.508_509delinsAT
ENST00000451248.5:c.297_298delinsAT
ENST00000458223.5:c.310_311delinsAT
ENST00000461686.5:n.1858_1859delinsAT
ENST00000462349.5:n.838_839delinsAT
ENST00000491776.1:n.482_483delinsAT
NM_000071.2:c.1547_1548delinsAT , LRG_777t1:c.1547_1548delinsAT NP_000062.1:p.Ile516Asn
NM_001178008.1:c.1547_1548delinsAT NP_001171479.1:p.Ile516Asn
NM_001178009.1:c.1547_1548delinsAT NP_001171480.1:p.Ile516Asn
XM_011529773.1:c.1598_1599delinsAT XP_011528075.1:p.Ile533Asn
XM_011529774.1:c.1598_1599delinsAT XP_011528076.1:p.Ile533Asn
XM_011529775.1:c.1598_1599delinsAT XP_011528077.1:p.Ile533Asn
XM_011529776.1:c.1598_1599delinsAT XP_011528078.1:p.Ile533Asn
XM_011529777.1:c.1547_1548delinsAT XP_011528079.1:p.Ile516Asn
XM_011529778.1:c.1547_1548delinsAT XP_011528080.1:p.Ile516Asn
XM_011529779.1:c.1547_1548delinsAT XP_011528081.1:p.Ile516Asn
XM_011529781.1:c.1547_1548delinsAT XP_011528083.1:p.Ile516Asn
XM_011529782.1:c.1547_1548delinsAT XP_011528084.1:p.Ile516Asn
XM_011529783.1:c.1232_1233delinsAT XP_011528085.1:p.Ile411Asn
XM_011529784.1:c.1232_1233delinsAT XP_011528086.1:p.Ile411Asn
NM_001178008.2:c.1547_1548delinsAT NP_001171479.1:p.Ile516Asn
NM_001178009.2:c.1547_1548delinsAT NP_001171480.1:p.Ile516Asn
NM_001320298.1:c.1547_1548delinsAT NP_001307227.1:p.Ile516Asn
NM_001321072.1:c.1232_1233delinsAT NP_001308001.1:p.Ile411Asn
XM_011529774.2:c.1598_1599delinsAT XP_011528076.1:p.Ile533Asn
XM_011529777.2:c.1547_1548delinsAT XP_011528079.1:p.Ile516Asn
XM_011529783.2:c.1232_1233delinsAT XP_011528085.1:p.Ile411Asn
XM_017028491.2:c.1547_1548delinsAT XP_016883980.1:p.Ile516Asn
XM_024452136.1:c.1598_1599delinsAT XP_024307904.1:p.Ile533Asn
XM_024452137.1:c.1598_1599delinsAT XP_024307905.1:p.Ile533Asn
XM_024452138.1:c.1232_1233delinsAT XP_024307906.1:p.Ile411Asn
XM_024452139.1:c.1232_1233delinsAT XP_024307907.1:p.Ile411Asn
XM_024452140.1:c.1232_1233delinsAT XP_024307908.1:p.Ile411Asn
XR_001754915.1:n.1926_1927delinsAT
XR_001754916.2:n.1851_1852delinsAT
XR_001754917.2:n.1851_1852delinsAT
XR_002958634.1:n.2526_2527delinsAT
NM_000071.3:c.1547_1548delinsAT MANE Select NP_000062.1:p.Ile516Asn
NM_001178009.3:c.1547_1548delinsAT NP_001171480.1:p.Ile516Asn
NM_001178008.3:c.1547_1548delinsAT NP_001171479.1:p.Ile516Asn
NM_001320298.2:c.1547_1548delinsAT NP_001307227.1:p.Ile516Asn