Canonical Allele Identifier: CA2195404693

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014444_91014447delinsGAAA , CM000677.2:g.91014444_91014447delinsGAAA	GRCh38
NC_000015.9:g.91557674_91557677delinsGAAA , CM000677.1:g.91557674_91557677delinsGAAA	GRCh37
NC_000015.8:g.89358678_89358681delinsGAAA	NCBI36
NG_012162.1:g.13157_13160delinsTTTC , LRG_884:g.13157_13160delinsTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.240-14_240-11delinsTTTC MANE Select	ENSP00000327650.4:n.240-14_240-11delinsTT...
ENST00000643536.1:c.240-14_240-11delinsTTTC	ENSP00000494429.1:n.240-14_240-11delinsTT...
ENST00000647331.1:c.240-14_240-11delinsTTTC	ENSP00000493953.1:n.240-14_240-11delinsTT...
ENST00000333371.7:c.240-14_240-11delinsTTTC	ENSP00000327650.3:n.240-14_240-11delinsTT...
ENST00000535906.1:c.159-14_159-11delinsTTTC	ENSP00000444053.1:n.159-14_159-11delinsTT...
ENST00000554264.5:n.163-14_163-11delinsTTTC
ENST00000556096.6:n.634-14_634-11delinsTTTC
ENST00000557358.1:n.444-14_444-11delinsTTTC
ENST00000574755.5:c.178-14_178-11delinsTTTC	ENSP00000460413.1:n.178-14_178-11delinsTT...
NM_001289148.1:c.159-14_159-11delinsTTTC	NP_001276077.1:n.159-14_159-11delinsTTTC
NM_001289149.1:c.-34-14_-34-11delinsTTTC	NP_001276078.1:n.-34-14_-34-11delinsTTTC
NM_018668.4:c.240-14_240-11delinsTTTC , LRG_884t1:c.240-14_240-11delinsTTTC	NP_061138.3:n.240-14_240-11delinsTTTC
XM_005254884.2:c.240-14_240-11delinsTTTC	XP_005254941.1:n.240-14_240-11delinsTTTC
XM_005254887.1:c.-34-14_-34-11delinsTTTC	XP_005254944.1:n.-34-14_-34-11delinsTTTC
XM_005254888.2:c.240-14_240-11delinsTTTC	XP_005254945.1:n.240-14_240-11delinsTTTC
XM_011521448.1:c.-34-14_-34-11delinsTTTC	XP_011519750.1:n.-34-14_-34-11delinsTTTC
XM_017022075.2:c.-122-14_-122-11delinsTTTC	XP_016877564.1:n.-122-14_-122-11delinsTTT...
XM_017022076.1:c.-122-14_-122-11delinsTTTC	XP_016877565.1:n.-122-14_-122-11delinsTTT...
XR_001751213.2:n.576-14_576-11delinsTTTC
NM_018668.5:c.240-14_240-11delinsTTTC MANE Select	NP_061138.3:n.240-14_240-11delinsTTTC