Canonical Allele Identifier: CA4964440

Gene: VLDLR

Linked Data

• dbSNP Id: rs780401350
• ExAC: 9:2635559 TGAAAA / T
• gnomAD v2: 9-2635559-TGAAAA-T
• gnomAD v4: 9-2635559-TGAAAA-T
• MyVariant Identifiers: chr9:g.2635560_2635564del (hg19) ; chr9:g.2635560_2635564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2635563_2635567del , CM000671.2:g.2635563_2635567del	GRCh38
NC_000009.11:g.2635563_2635567del , CM000671.1:g.2635563_2635567del	GRCh37
NC_000009.10:g.2625563_2625567del	NCBI36
NG_012741.1:g.18771_18775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382096.6:c.193_197del	ENSP00000371528.2:p.Lys65LeufsTer8
ENST00000382100.8:c.193_197del MANE Select	ENSP00000371532.2:p.Lys65LeufsTer8
ENST00000679851.1:n.178_182del
ENST00000680021.1:n.393_397del
ENST00000680243.1:c.193_197del	ENSP00000505911.1:p.Lys65LeufsTer2
ENST00000680746.1:c.193_197del	ENSP00000505030.1:p.Lys65LeufsTer8
ENST00000680891.1:c.291_295del	ENSP00000505167.1:p.Lys97AsnfsTer?
ENST00000681306.1:c.193_197del	ENSP00000506072.1:p.Lys65LeufsTer8
ENST00000681618.1:c.193_197del	ENSP00000505773.1:p.Lys65LeufsTer8
ENST00000681644.1:c.291_295del	ENSP00000505180.1:p.Lys97AsnfsTer?
ENST00000681770.1:n.181_185del
ENST00000681806.1:c.193_197del	ENSP00000505282.1:p.Lys65LeufsTer8
ENST00000382096.5:c.193_197del	ENSP00000371528.1:p.Lys65LeufsTer8
ENST00000382099.2:c.193_197del	ENSP00000371531.2:p.Lys65LeufsTer8
ENST00000382100.7:c.193_197del	ENSP00000371532.2:p.Lys65LeufsTer8
NM_001018056.1:c.193_197del	NP_001018066.1:p.Lys65LeufsTer8
NM_003383.3:c.193_197del	NP_003374.3:p.Lys65LeufsTer8
XM_011518029.1:c.193_197del	XP_011516331.1:p.Lys65LeufsTer8
NM_001018056.2:c.193_197del	NP_001018066.1:p.Lys65LeufsTer8
NM_001322225.1:c.193_197del	NP_001309154.1:p.Lys65LeufsTer8
NM_001322226.1:c.193_197del	NP_001309155.1:p.Lys65LeufsTer8
NM_003383.4:c.193_197del	NP_003374.3:p.Lys65LeufsTer8
XR_001746373.2:n.597_601del
XR_002956805.1:n.597_601del
NM_003383.5:c.193_197del MANE Select	NP_003374.3:p.Lys65LeufsTer8
NM_001018056.3:c.193_197del	NP_001018066.1:p.Lys65LeufsTer8
NM_001322225.2:c.193_197del	NP_001309154.1:p.Lys65LeufsTer8
NM_001322226.2:c.193_197del	NP_001309155.1:p.Lys65LeufsTer8