Canonical Allele Identifier: CA3273285703
Community Standard Title: NM_000071.3(CBS):c.262_264delinsTCA (p.Pro88Ser)
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43068561_43068563delinsTGA , CM000683.2:g.43068561_43068563delinsTGA GRCh38
NG_008938.1:g.12368_12370delinsTCA , LRG_777:g.12368_12370delinsTCA

Transcript Alleles

HGVS Amino-acid Change
NM_000071.3:c.262_264delinsTCA MANE Select NP_000062.1:p.Pro88Ser
ENST00000398165.8:c.262_264delinsTCA MANE Select ENSP00000381231.4:p.Pro88Ser
NM_000071.2:c.262_264delinsTCA , LRG_777t1:c.262_264delinsTCA NP_000062.1:p.Pro88Ser
NM_001178008.1:c.262_264delinsTCA NP_001171479.1:p.Pro88Ser
NM_001178008.2:c.262_264delinsTCA NP_001171479.1:p.Pro88Ser
NM_001178008.3:c.262_264delinsTCA NP_001171479.1:p.Pro88Ser
NM_001178009.1:c.262_264delinsTCA NP_001171480.1:p.Pro88Ser
NM_001178009.2:c.262_264delinsTCA NP_001171480.1:p.Pro88Ser
NM_001178009.3:c.262_264delinsTCA NP_001171480.1:p.Pro88Ser
NM_001320298.1:c.262_264delinsTCA NP_001307227.1:p.Pro88Ser
NM_001320298.2:c.262_264delinsTCA NP_001307227.1:p.Pro88Ser
ENST00000352178.9:c.262_264delinsTCA ENSP00000344460.5:p.Pro88Ser
ENST00000359624.7:c.262_264delinsTCA ENSP00000352643.3:p.Pro88Ser
ENST00000398158.5:c.262_264delinsTCA ENSP00000381225.1:p.Pro88Ser
ENST00000398165.7:c.262_264delinsTCA ENSP00000381231.3:p.Pro88Ser
ENST00000441030.5:c.262_264delinsTCA ENSP00000388235.1:p.Pro88Ser
ENST00000465732.5:n.441_443delinsTCA
ENST00000470912.5:n.522_524delinsTCA
ENST00000488526.1:n.513_515delinsTCA
XM_011529777.1:c.262_264delinsTCA XP_011528079.1:p.Pro88Ser
XM_011529777.2:c.262_264delinsTCA XP_011528079.1:p.Pro88Ser
XM_011529778.1:c.262_264delinsTCA XP_011528080.1:p.Pro88Ser
XM_011529779.1:c.262_264delinsTCA XP_011528081.1:p.Pro88Ser
XM_011529781.1:c.262_264delinsTCA XP_011528083.1:p.Pro88Ser
XM_011529782.1:c.262_264delinsTCA XP_011528084.1:p.Pro88Ser
XM_017028491.2:c.262_264delinsTCA XP_016883980.1:p.Pro88Ser
XM_024452136.1:c.-507_-505delinsTCA XP_024307904.1:n.-507_-505delinsTCA
XM_024452137.1:c.-507_-505delinsTCA XP_024307905.1:n.-507_-505delinsTCA
XM_024452138.1:c.-785_-783delinsTCA XP_024307906.1:n.-785_-783delinsTCA
XM_024452139.1:c.-785_-783delinsTCA XP_024307907.1:n.-785_-783delinsTCA
XM_024452140.1:c.-785_-783delinsTCA XP_024307908.1:n.-785_-783delinsTCA
XR_001754916.2:n.412_414delinsTCA
XR_001754917.2:n.412_414delinsTCA
XR_002958634.1:n.412_414delinsTCA