Canonical Allele Identifier: CA2689246626

Gene: VLDLR

Linked Data

• gnomAD v4: 9-2643167-A-AGTCCCTCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2643167_2643168insGTCCCTCTCG , CM000671.2:g.2643167_2643168insGTCCCTCTCG	GRCh38
NC_000009.11:g.2643167_2643168insGTCCCTCTCG , CM000671.1:g.2643167_2643168insGTCCCTCTCG	GRCh37
NC_000009.10:g.2633167_2633168insGTCCCTCTCG	NCBI36
NG_012741.1:g.26375_26376insGTCCCTCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.8_9insGTCCCTCTCG
ENST00000382100.8:c.456_457insGTCCCTCTCG MANE Select	ENSP00000371532.2:p.Thr153ValfsTer6
ENST00000679851.1:n.441_442insGTCCCTCTCG
ENST00000680021.1:n.656_657insGTCCCTCTCG
ENST00000680043.1:c.8_9insGTCCCTCTCG
ENST00000680219.1:c.8_9insGTCCCTCTCG
ENST00000680243.1:c.*235_*236insGTCCCTCTCG	ENSP00000505911.1:n.*235_*236insGTCCCTCTCG
ENST00000680296.1:c.8_9insGTCCCTCTCG
ENST00000680746.1:c.333_334insGTCCCTCTCG	ENSP00000505030.1:p.Thr112ValfsTer6
ENST00000680891.1:c.*248_*249insGTCCCTCTCG	ENSP00000505167.1:n.*248_*249insGTCCCTCTCG
ENST00000681306.1:c.456_457insGTCCCTCTCG	ENSP00000506072.1:p.Thr153ValfsTer6
ENST00000681618.1:c.333_334insGTCCCTCTCG	ENSP00000505773.1:p.Thr112ValfsTer6
ENST00000681644.1:c.*128_*129insGTCCCTCTCG	ENSP00000505180.1:n.*128_*129insGTCCCTCTCG
ENST00000681806.1:c.456_457insGTCCCTCTCG	ENSP00000505282.1:p.Thr153ValfsTer6
ENST00000681942.1:c.8_9insGTCCCTCTCG
ENST00000382096.5:c.333_334insGTCCCTCTCG	ENSP00000371528.1:p.Thr112ValfsTer6
ENST00000382099.2:c.456_457insGTCCCTCTCG	ENSP00000371531.2:p.Thr153ValfsTer6
ENST00000382100.7:c.456_457insGTCCCTCTCG	ENSP00000371532.2:p.Thr153ValfsTer6
NM_001018056.1:c.456_457insGTCCCTCTCG	NP_001018066.1:p.Thr153ValfsTer6
NM_003383.3:c.456_457insGTCCCTCTCG	NP_003374.3:p.Thr153ValfsTer6
XM_011518029.1:c.333_334insGTCCCTCTCG	XP_011516331.1:p.Thr112ValfsTer6
NM_001018056.2:c.456_457insGTCCCTCTCG	NP_001018066.1:p.Thr153ValfsTer6
NM_001322225.1:c.333_334insGTCCCTCTCG	NP_001309154.1:p.Thr112ValfsTer6
NM_001322226.1:c.333_334insGTCCCTCTCG	NP_001309155.1:p.Thr112ValfsTer6
NM_003383.4:c.456_457insGTCCCTCTCG	NP_003374.3:p.Thr153ValfsTer6
XR_001746373.2:n.860_861insGTCCCTCTCG
XR_002956805.1:n.860_861insGTCCCTCTCG
NM_003383.5:c.456_457insGTCCCTCTCG MANE Select	NP_003374.3:p.Thr153ValfsTer6
NM_001018056.3:c.456_457insGTCCCTCTCG	NP_001018066.1:p.Thr153ValfsTer6
NM_001322225.2:c.333_334insGTCCCTCTCG	NP_001309154.1:p.Thr112ValfsTer6
NM_001322226.2:c.333_334insGTCCCTCTCG	NP_001309155.1:p.Thr112ValfsTer6