Canonical Allele Identifier: CA2579813470

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068603_43068604delinsAA , CM000683.2:g.43068603_43068604delinsAA	GRCh38
NG_008938.1:g.12327_12328delinsTT , LRG_777:g.12327_12328delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.221_222delinsTT MANE Select	ENSP00000381231.4:p.Pro74Leu
ENST00000352178.9:c.221_222delinsTT	ENSP00000344460.5:p.Pro74Leu
ENST00000359624.7:c.221_222delinsTT	ENSP00000352643.3:p.Pro74Leu
ENST00000398158.5:c.221_222delinsTT	ENSP00000381225.1:p.Pro74Leu
ENST00000398165.7:c.221_222delinsTT	ENSP00000381231.3:p.Pro74Leu
ENST00000441030.5:c.221_222delinsTT	ENSP00000388235.1:p.Pro74Leu
ENST00000465732.5:n.400_401delinsTT
ENST00000470912.5:n.481_482delinsTT
ENST00000488526.1:n.472_473delinsTT
NM_000071.2:c.221_222delinsTT , LRG_777t1:c.221_222delinsTT	NP_000062.1:p.Pro74Leu
NM_001178008.1:c.221_222delinsTT	NP_001171479.1:p.Pro74Leu
NM_001178009.1:c.221_222delinsTT	NP_001171480.1:p.Pro74Leu
XM_011529777.1:c.221_222delinsTT	XP_011528079.1:p.Pro74Leu
XM_011529778.1:c.221_222delinsTT	XP_011528080.1:p.Pro74Leu
XM_011529779.1:c.221_222delinsTT	XP_011528081.1:p.Pro74Leu
XM_011529781.1:c.221_222delinsTT	XP_011528083.1:p.Pro74Leu
XM_011529782.1:c.221_222delinsTT	XP_011528084.1:p.Pro74Leu
NM_001178008.2:c.221_222delinsTT	NP_001171479.1:p.Pro74Leu
NM_001178009.2:c.221_222delinsTT	NP_001171480.1:p.Pro74Leu
NM_001320298.1:c.221_222delinsTT	NP_001307227.1:p.Pro74Leu
XM_011529777.2:c.221_222delinsTT	XP_011528079.1:p.Pro74Leu
XM_017028491.2:c.221_222delinsTT	XP_016883980.1:p.Pro74Leu
XM_024452136.1:c.-548_-547delinsTT	XP_024307904.1:n.-548_-547delinsTT
XM_024452137.1:c.-548_-547delinsTT	XP_024307905.1:n.-548_-547delinsTT
XM_024452138.1:c.-826_-825delinsTT	XP_024307906.1:n.-826_-825delinsTT
XM_024452139.1:c.-826_-825delinsTT	XP_024307907.1:n.-826_-825delinsTT
XM_024452140.1:c.-826_-825delinsTT	XP_024307908.1:n.-826_-825delinsTT
XR_001754916.2:n.371_372delinsTT
XR_001754917.2:n.371_372delinsTT
XR_002958634.1:n.371_372delinsTT
NM_000071.3:c.221_222delinsTT MANE Select	NP_000062.1:p.Pro74Leu
NM_001178009.3:c.221_222delinsTT	NP_001171480.1:p.Pro74Leu
NM_001178008.3:c.221_222delinsTT	NP_001171479.1:p.Pro74Leu
NM_001320298.2:c.221_222delinsTT	NP_001307227.1:p.Pro74Leu