Canonical Allele Identifier: CA2391101021

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43056780_43056782delinsGCA , CM000683.2:g.43056780_43056782delinsGCA	GRCh38
NG_008938.1:g.24149_24151delinsTGC , LRG_777:g.24149_24151delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.1552+21_1552+23delinsTGC MANE Select	ENSP00000381231.4:n.1552+21_1552+23delinsTGC
ENST00000352178.9:c.1552+21_1552+23delinsTGC	ENSP00000344460.5:n.1552+21_1552+23delinsTGC
ENST00000359624.7:c.1552+21_1552+23delinsTGC	ENSP00000352643.3:n.1552+21_1552+23delinsTGC
ENST00000398158.5:c.1552+21_1552+23delinsTGC	ENSP00000381225.1:n.1552+21_1552+23delinsTGC
ENST00000398165.7:c.1552+21_1552+23delinsTGC	ENSP00000381231.3:n.1552+21_1552+23delinsTGC
ENST00000430013.1:c.513+21_513+23delinsTGC
ENST00000451248.5:c.302+21_302+23delinsTGC
ENST00000458223.5:c.315+21_315+23delinsTGC
ENST00000461686.5:n.1863+21_1863+23delinsTGC
ENST00000462349.5:n.843+21_843+23delinsTGC
ENST00000491776.1:n.487+21_487+23delinsTGC
NM_000071.2:c.1552+21_1552+23delinsTGC , LRG_777t1:c.1552+21_1552+23delinsTGC	NP_000062.1:n.1552+21_1552+23delinsTGC
NM_001178008.1:c.1552+21_1552+23delinsTGC	NP_001171479.1:n.1552+21_1552+23delinsTGC
NM_001178009.1:c.1552+21_1552+23delinsTGC	NP_001171480.1:n.1552+21_1552+23delinsTGC
XM_011529773.1:c.1603+21_1603+23delinsTGC	XP_011528075.1:n.1603+21_1603+23delinsTGC
XM_011529774.1:c.1603+21_1603+23delinsTGC	XP_011528076.1:n.1603+21_1603+23delinsTGC
XM_011529775.1:c.1603+21_1603+23delinsTGC	XP_011528077.1:n.1603+21_1603+23delinsTGC
XM_011529776.1:c.1603+21_1603+23delinsTGC	XP_011528078.1:n.1603+21_1603+23delinsTGC
XM_011529777.1:c.1552+21_1552+23delinsTGC	XP_011528079.1:n.1552+21_1552+23delinsTGC
XM_011529778.1:c.1552+21_1552+23delinsTGC	XP_011528080.1:n.1552+21_1552+23delinsTGC
XM_011529779.1:c.1552+21_1552+23delinsTGC	XP_011528081.1:n.1552+21_1552+23delinsTGC
XM_011529781.1:c.1552+21_1552+23delinsTGC	XP_011528083.1:n.1552+21_1552+23delinsTGC
XM_011529782.1:c.1552+21_1552+23delinsTGC	XP_011528084.1:n.1552+21_1552+23delinsTGC
XM_011529783.1:c.1237+21_1237+23delinsTGC	XP_011528085.1:n.1237+21_1237+23delinsTGC
XM_011529784.1:c.1237+21_1237+23delinsTGC	XP_011528086.1:n.1237+21_1237+23delinsTGC
NM_001178008.2:c.1552+21_1552+23delinsTGC	NP_001171479.1:n.1552+21_1552+23delinsTGC
NM_001178009.2:c.1552+21_1552+23delinsTGC	NP_001171480.1:n.1552+21_1552+23delinsTGC
NM_001320298.1:c.1552+21_1552+23delinsTGC	NP_001307227.1:n.1552+21_1552+23delinsTGC
NM_001321072.1:c.1237+21_1237+23delinsTGC	NP_001308001.1:n.1237+21_1237+23delinsTGC
XM_011529774.2:c.1603+21_1603+23delinsTGC	XP_011528076.1:n.1603+21_1603+23delinsTGC
XM_011529777.2:c.1552+21_1552+23delinsTGC	XP_011528079.1:n.1552+21_1552+23delinsTGC
XM_011529783.2:c.1237+21_1237+23delinsTGC	XP_011528085.1:n.1237+21_1237+23delinsTGC
XM_017028491.2:c.1552+21_1552+23delinsTGC	XP_016883980.1:n.1552+21_1552+23delinsTGC
XM_024452136.1:c.1603+21_1603+23delinsTGC	XP_024307904.1:n.1603+21_1603+23delinsTGC
XM_024452137.1:c.1603+21_1603+23delinsTGC	XP_024307905.1:n.1603+21_1603+23delinsTGC
XM_024452138.1:c.1237+21_1237+23delinsTGC	XP_024307906.1:n.1237+21_1237+23delinsTGC
XM_024452139.1:c.1237+21_1237+23delinsTGC	XP_024307907.1:n.1237+21_1237+23delinsTGC
XM_024452140.1:c.1237+21_1237+23delinsTGC	XP_024307908.1:n.1237+21_1237+23delinsTGC
XR_001754915.1:n.1931+21_1931+23delinsTGC
XR_001754916.2:n.1856+21_1856+23delinsTGC
XR_001754917.2:n.1856+21_1856+23delinsTGC
XR_002958634.1:n.2531+21_2531+23delinsTGC
NM_000071.3:c.1552+21_1552+23delinsTGC MANE Select	NP_000062.1:n.1552+21_1552+23delinsTGC
NM_001178009.3:c.1552+21_1552+23delinsTGC	NP_001171480.1:n.1552+21_1552+23delinsTGC
NM_001178008.3:c.1552+21_1552+23delinsTGC	NP_001171479.1:n.1552+21_1552+23delinsTGC
NM_001320298.2:c.1552+21_1552+23delinsTGC	NP_001307227.1:n.1552+21_1552+23delinsTGC