Canonical Allele Identifier: CA2195398843

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91001801_91001804delinsTGAG , CM000677.2:g.91001801_91001804delinsTGAG	GRCh38
NC_000015.9:g.91545031_91545034delinsTGAG , CM000677.1:g.91545031_91545034delinsTGAG	GRCh37
NC_000015.8:g.89346035_89346038delinsTGAG	NCBI36
NG_012162.1:g.25800_25803delinsCTCA , LRG_884:g.25800_25803delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1405+246_1405+249delinsCTCA MANE Select	ENSP00000327650.4:n.1405+246_1405+249delinsCTCA
ENST00000643536.1:c.1405+246_1405+249delinsCTCA	ENSP00000494429.1:n.1405+246_1405+249delinsCTCA
ENST00000647331.1:c.1405+246_1405+249delinsCTCA	ENSP00000493953.1:n.1405+246_1405+249delinsCTCA
ENST00000333371.7:c.1405+246_1405+249delinsCTCA	ENSP00000327650.3:n.1405+246_1405+249delinsCTCA
ENST00000535906.1:c.1324+246_1324+249delinsCTCA	ENSP00000444053.1:n.1324+246_1324+249delinsCTCA
ENST00000574755.5:c.*1100+246_*1100+249delinsCTCA	ENSP00000460413.1:n.*1100+246_*1100+249delinsCTCA
NM_001289148.1:c.1324+246_1324+249delinsCTCA	NP_001276077.1:n.1324+246_1324+249delinsCTCA
NM_001289149.1:c.1132+246_1132+249delinsCTCA	NP_001276078.1:n.1132+246_1132+249delinsCTCA
NM_018668.4:c.1405+246_1405+249delinsCTCA , LRG_884t1:c.1405+246_1405+249delinsCTCA	NP_061138.3:n.1405+246_1405+249delinsCTCA
XM_005254884.2:c.1327+246_1327+249delinsCTCA	XP_005254941.1:n.1327+246_1327+249delinsCTCA
XM_005254887.1:c.1132+246_1132+249delinsCTCA	XP_005254944.1:n.1132+246_1132+249delinsCTCA
XM_011521448.1:c.1132+246_1132+249delinsCTCA	XP_011519750.1:n.1132+246_1132+249delinsCTCA
XM_011521449.1:c.1081+246_1081+249delinsCTCA	XP_011519751.1:n.1081+246_1081+249delinsCTCA
XM_011521449.2:c.1081+246_1081+249delinsCTCA	XP_011519751.1:n.1081+246_1081+249delinsCTCA
XM_017022075.2:c.1060+246_1060+249delinsCTCA	XP_016877564.1:n.1060+246_1060+249delinsCTCA
XM_017022076.1:c.1060+246_1060+249delinsCTCA	XP_016877565.1:n.1060+246_1060+249delinsCTCA
XR_001751213.2:n.1903+246_1903+249delinsCTCA
NM_018668.5:c.1405+246_1405+249delinsCTCA MANE Select	NP_061138.3:n.1405+246_1405+249delinsCTCA