Canonical Allele Identifier: CA1120577332

Gene: VLDLR

Linked Data

• dbSNP Id: rs1818053621
• gnomAD v3: 9-2646037-TAC-T
• gnomAD v4: 9-2646037-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2646039_2646040del , CM000671.2:g.2646039_2646040del	GRCh38
NC_000009.11:g.2646039_2646040del , CM000671.1:g.2646039_2646040del	GRCh37
NC_000009.10:g.2636039_2636040del	NCBI36
NG_012741.1:g.29247_29248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1043-295_1043-294del
ENST00000382100.8:c.1485-295_1485-294del MANE Select	ENSP00000371532.2:n.1485-295_1485-294del
ENST00000478776.2:n.930-295_930-294del
ENST00000679718.1:n.721-295_721-294del
ENST00000679750.1:n.901-295_901-294del
ENST00000679851.1:n.1669-295_1669-294del
ENST00000680021.1:n.1685-295_1685-294del
ENST00000680043.1:c.1037-295_1037-294del
ENST00000680219.1:c.1052-295_1052-294del
ENST00000680243.1:c.*1264-295_*1264-294del	ENSP00000505911.1:n.*1264-295_*1264-294del
ENST00000680296.1:c.911-295_911-294del
ENST00000680332.1:n.567+294_567+295del
ENST00000680746.1:c.1362-295_1362-294del	ENSP00000505030.1:n.1362-295_1362-294del
ENST00000680751.1:n.890-295_890-294del
ENST00000680891.1:c.*1277-295_*1277-294del	ENSP00000505167.1:n.*1277-295_*1277-294del
ENST00000680975.1:n.870-295_870-294del
ENST00000681087.1:n.930-295_930-294del
ENST00000681306.1:c.1485-295_1485-294del	ENSP00000506072.1:n.1485-295_1485-294del
ENST00000681618.1:c.1362-295_1362-294del	ENSP00000505773.1:n.1362-295_1362-294del
ENST00000681644.1:c.*1157-295_*1157-294del	ENSP00000505180.1:n.*1157-295_*1157-294del
ENST00000681806.1:c.1484+294_1484+295del	ENSP00000505282.1:n.1484+294_1484+295del
ENST00000681942.1:c.1032+294_1032+295del
ENST00000382099.2:c.1485-295_1485-294del	ENSP00000371531.2:n.1485-295_1485-294del
ENST00000382100.7:c.1485-295_1485-294del	ENSP00000371532.2:n.1485-295_1485-294del
NM_001018056.1:c.1485-295_1485-294del	NP_001018066.1:n.1485-295_1485-294del
NM_003383.3:c.1485-295_1485-294del	NP_003374.3:n.1485-295_1485-294del
XM_011518029.1:c.1362-295_1362-294del	XP_011516331.1:n.1362-295_1362-294del
NM_001018056.2:c.1485-295_1485-294del	NP_001018066.1:n.1485-295_1485-294del
NM_001322225.1:c.1362-295_1362-294del	NP_001309154.1:n.1362-295_1362-294del
NM_001322226.1:c.1362-295_1362-294del	NP_001309155.1:n.1362-295_1362-294del
NM_003383.4:c.1485-295_1485-294del	NP_003374.3:n.1485-295_1485-294del
XR_001746373.2:n.1888+294_1888+295del
XR_002956805.1:n.1888+294_1888+295del
NM_003383.5:c.1485-295_1485-294del MANE Select	NP_003374.3:n.1485-295_1485-294del
NM_001018056.3:c.1485-295_1485-294del	NP_001018066.1:n.1485-295_1485-294del
NM_001322225.2:c.1362-295_1362-294del	NP_001309154.1:n.1362-295_1362-294del
NM_001322226.2:c.1362-295_1362-294del	NP_001309155.1:n.1362-295_1362-294del