Canonical Allele Identifier: CA862632101

Gene: VLDLR

Linked Data

• dbSNP Id: rs1284890574
• gnomAD v3: 9-2647609-TTC-T
• gnomAD v4: 9-2647609-TTC-T
• MyVariant Identifiers: chr9:g.2647610_2647611del (hg19) ; chr9:g.2647610_2647611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647612_2647613del , CM000671.2:g.2647612_2647613del	GRCh38
NC_000009.11:g.2647612_2647613del , CM000671.1:g.2647612_2647613del	GRCh37
NC_000009.10:g.2637612_2637613del	NCBI36
NG_012741.1:g.30820_30821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1380+20_1380+21del
ENST00000382100.8:c.1822+20_1822+21del MANE Select	ENSP00000371532.2:n.1822+20_1822+21del
ENST00000478776.2:n.1287_1288del
ENST00000679488.1:n.332_333del
ENST00000679718.1:n.1058+20_1058+21del
ENST00000679750.1:n.1238+20_1238+21del
ENST00000679780.1:n.3_4del
ENST00000679851.1:n.2026_2027del
ENST00000680021.1:n.2022+20_2022+21del
ENST00000680043.1:c.1374+20_1374+21del
ENST00000680219.1:c.1389+20_1389+21del
ENST00000680243.1:c.*1601+20_*1601+21del	ENSP00000505911.1:n.*1601+20_*1601+21del
ENST00000680296.1:c.1248+20_1248+21del
ENST00000680332.1:n.860_861del
ENST00000680746.1:c.1699+20_1699+21del	ENSP00000505030.1:n.1699+20_1699+21del
ENST00000680751.1:n.1227+20_1227+21del
ENST00000680891.1:c.*1614+20_*1614+21del	ENSP00000505167.1:n.*1614+20_*1614+21del
ENST00000680975.1:n.1207+20_1207+21del
ENST00000681087.1:n.1267+20_1267+21del
ENST00000681306.1:c.1822+20_1822+21del	ENSP00000506072.1:n.1822+20_1822+21del
ENST00000681618.1:c.1699+20_1699+21del	ENSP00000505773.1:n.1699+20_1699+21del
ENST00000681644.1:c.*1494+20_*1494+21del	ENSP00000505180.1:n.*1494+20_*1494+21del
ENST00000681806.1:c.*260+20_*260+21del	ENSP00000505282.1:n.*260+20_*260+21del
ENST00000681942.1:c.1305+20_1305+21del
ENST00000382099.2:c.1822+20_1822+21del	ENSP00000371531.2:n.1822+20_1822+21del
ENST00000382100.7:c.1822+20_1822+21del	ENSP00000371532.2:n.1822+20_1822+21del
ENST00000478776.1:n.354_355del
NM_001018056.1:c.1822+20_1822+21del	NP_001018066.1:n.1822+20_1822+21del
NM_003383.3:c.1822+20_1822+21del	NP_003374.3:n.1822+20_1822+21del
XM_011518029.1:c.1699+20_1699+21del	XP_011516331.1:n.1699+20_1699+21del
NM_001018056.2:c.1822+20_1822+21del	NP_001018066.1:n.1822+20_1822+21del
NM_001322225.1:c.1699+20_1699+21del	NP_001309154.1:n.1699+20_1699+21del
NM_001322226.1:c.1699+20_1699+21del	NP_001309155.1:n.1699+20_1699+21del
NM_003383.4:c.1822+20_1822+21del	NP_003374.3:n.1822+20_1822+21del
XR_001746373.2:n.2161+20_2161+21del
XR_002956805.1:n.2161+20_2161+21del
NM_003383.5:c.1822+20_1822+21del MANE Select	NP_003374.3:n.1822+20_1822+21del
NM_001018056.3:c.1822+20_1822+21del	NP_001018066.1:n.1822+20_1822+21del
NM_001322225.2:c.1699+20_1699+21del	NP_001309154.1:n.1699+20_1699+21del
NM_001322226.2:c.1699+20_1699+21del	NP_001309155.1:n.1699+20_1699+21del