Canonical Allele Identifier: CA2579808350

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068586_43068587delinsTA , CM000683.2:g.43068586_43068587delinsTA	GRCh38
NG_008938.1:g.12344_12345delinsTA , LRG_777:g.12344_12345delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.238_239delinsTA MANE Select	ENSP00000381231.4:p.Ile80Tyr
ENST00000352178.9:c.238_239delinsTA	ENSP00000344460.5:p.Ile80Tyr
ENST00000359624.7:c.238_239delinsTA	ENSP00000352643.3:p.Ile80Tyr
ENST00000398158.5:c.238_239delinsTA	ENSP00000381225.1:p.Ile80Tyr
ENST00000398165.7:c.238_239delinsTA	ENSP00000381231.3:p.Ile80Tyr
ENST00000441030.5:c.238_239delinsTA	ENSP00000388235.1:p.Ile80Tyr
ENST00000465732.5:n.417_418delinsTA
ENST00000470912.5:n.498_499delinsTA
ENST00000488526.1:n.489_490delinsTA
NM_000071.2:c.238_239delinsTA , LRG_777t1:c.238_239delinsTA	NP_000062.1:p.Ile80Tyr
NM_001178008.1:c.238_239delinsTA	NP_001171479.1:p.Ile80Tyr
NM_001178009.1:c.238_239delinsTA	NP_001171480.1:p.Ile80Tyr
XM_011529777.1:c.238_239delinsTA	XP_011528079.1:p.Ile80Tyr
XM_011529778.1:c.238_239delinsTA	XP_011528080.1:p.Ile80Tyr
XM_011529779.1:c.238_239delinsTA	XP_011528081.1:p.Ile80Tyr
XM_011529781.1:c.238_239delinsTA	XP_011528083.1:p.Ile80Tyr
XM_011529782.1:c.238_239delinsTA	XP_011528084.1:p.Ile80Tyr
NM_001178008.2:c.238_239delinsTA	NP_001171479.1:p.Ile80Tyr
NM_001178009.2:c.238_239delinsTA	NP_001171480.1:p.Ile80Tyr
NM_001320298.1:c.238_239delinsTA	NP_001307227.1:p.Ile80Tyr
XM_011529777.2:c.238_239delinsTA	XP_011528079.1:p.Ile80Tyr
XM_017028491.2:c.238_239delinsTA	XP_016883980.1:p.Ile80Tyr
XM_024452136.1:c.-531_-530delinsTA	XP_024307904.1:n.-531_-530delinsTA
XM_024452137.1:c.-531_-530delinsTA	XP_024307905.1:n.-531_-530delinsTA
XM_024452138.1:c.-809_-808delinsTA	XP_024307906.1:n.-809_-808delinsTA
XM_024452139.1:c.-809_-808delinsTA	XP_024307907.1:n.-809_-808delinsTA
XM_024452140.1:c.-809_-808delinsTA	XP_024307908.1:n.-809_-808delinsTA
XR_001754916.2:n.388_389delinsTA
XR_001754917.2:n.388_389delinsTA
XR_002958634.1:n.388_389delinsTA
NM_000071.3:c.238_239delinsTA MANE Select	NP_000062.1:p.Ile80Tyr
NM_001178009.3:c.238_239delinsTA	NP_001171480.1:p.Ile80Tyr
NM_001178008.3:c.238_239delinsTA	NP_001171479.1:p.Ile80Tyr
NM_001320298.2:c.238_239delinsTA	NP_001307227.1:p.Ile80Tyr