Canonical Allele Identifier: CA1120572253

Gene: VLDLR

Linked Data

• dbSNP Id: rs1817786418
• gnomAD v3: 9-2640722-AAATC-A
• gnomAD v4: 9-2640722-AAATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2640725_2640728del , CM000671.2:g.2640725_2640728del	GRCh38
NC_000009.11:g.2640725_2640728del , CM000671.1:g.2640725_2640728del	GRCh37
NC_000009.10:g.2630725_2630728del	NCBI36
NG_012741.1:g.23933_23936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382100.8:c.326-652_326-649del MANE Select	ENSP00000371532.2:n.326-652_326-649del
ENST00000679851.1:n.311-652_311-649del
ENST00000680021.1:n.526-652_526-649del
ENST00000680243.1:c.*105-652_*105-649del	ENSP00000505911.1:n.*105-652_*105-649del
ENST00000680746.1:c.325+744_325+747del	ENSP00000505030.1:n.325+744_325+747del
ENST00000680891.1:c.*121-652_*121-649del	ENSP00000505167.1:n.*121-652_*121-649del
ENST00000681306.1:c.326-652_326-649del	ENSP00000506072.1:n.326-652_326-649del
ENST00000681618.1:c.325+744_325+747del	ENSP00000505773.1:n.325+744_325+747del
ENST00000681644.1:c.*120+744_*120+747del	ENSP00000505180.1:n.*120+744_*120+747del
ENST00000681770.1:n.1057_1060del
ENST00000681806.1:c.326-652_326-649del	ENSP00000505282.1:n.326-652_326-649del
ENST00000382096.5:c.325+744_325+747del	ENSP00000371528.1:n.325+744_325+747del
ENST00000382099.2:c.326-652_326-649del	ENSP00000371531.2:n.326-652_326-649del
ENST00000382100.7:c.326-652_326-649del	ENSP00000371532.2:n.326-652_326-649del
NM_001018056.1:c.326-652_326-649del	NP_001018066.1:n.326-652_326-649del
NM_003383.3:c.326-652_326-649del	NP_003374.3:n.326-652_326-649del
XM_011518029.1:c.325+744_325+747del	XP_011516331.1:n.325+744_325+747del
NM_001018056.2:c.326-652_326-649del	NP_001018066.1:n.326-652_326-649del
NM_001322225.1:c.325+744_325+747del	NP_001309154.1:n.325+744_325+747del
NM_001322226.1:c.325+744_325+747del	NP_001309155.1:n.325+744_325+747del
NM_003383.4:c.326-652_326-649del	NP_003374.3:n.326-652_326-649del
XR_001746373.2:n.730-652_730-649del
XR_002956805.1:n.730-652_730-649del
NM_003383.5:c.326-652_326-649del MANE Select	NP_003374.3:n.326-652_326-649del
NM_001018056.3:c.326-652_326-649del	NP_001018066.1:n.326-652_326-649del
NM_001322225.2:c.325+744_325+747del	NP_001309154.1:n.325+744_325+747del
NM_001322226.2:c.325+744_325+747del	NP_001309155.1:n.325+744_325+747del