Canonical Allele Identifier: CA783239321

Gene: LDLR

Linked Data

• dbSNP Id: rs1280766405
• gnomAD v3: 19-11102334-T-TGA
• gnomAD v4: 19-11102334-T-TGA
• MyVariant Identifiers: chr19:g.11213010_11213011insGA (hg19) ; chr19:g.11102334_11102335insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102335_11102336dup , CM000681.2:g.11102335_11102336dup	GRCh38
NC_000019.9:g.11213011_11213012dup , CM000681.1:g.11213011_11213012dup	GRCh37
NC_000019.8:g.11074011_11074012dup	NCBI36
NG_009060.1:g.17955_17956dup , LRG_274:g.17955_17956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-329_449-328dup	ENSP00000252444.6:n.449-329_449-328dup
ENST00000559340.2:c.191-329_191-328dup	ENSP00000453696.2:n.191-329_191-328dup
ENST00000560467.2:c.191-329_191-328dup	ENSP00000453513.2:n.191-329_191-328dup
ENST00000558518.6:c.191-329_191-328dup MANE Select	ENSP00000454071.1:n.191-329_191-328dup
ENST00000252444.9:c.445-329_445-328dup
ENST00000455727.6:c.191-329_191-328dup	ENSP00000397829.2:n.191-329_191-328dup
ENST00000535915.5:c.190+1990_190+1991dup	ENSP00000440520.1:n.190+1990_190+1991dup
ENST00000545707.5:c.191-329_191-328dup	ENSP00000437639.1:n.191-329_191-328dup
ENST00000557933.5:c.191-329_191-328dup	ENSP00000453557.1:n.191-329_191-328dup
ENST00000557958.1:n.277-329_277-328dup
ENST00000558013.5:c.191-329_191-328dup	ENSP00000453346.1:n.191-329_191-328dup
ENST00000558518.5:c.191-329_191-328dup	ENSP00000454071.1:n.191-329_191-328dup
NM_000527.4:c.191-329_191-328dup , LRG_274t1:c.191-329_191-328dup	NP_000518.1:n.191-329_191-328dup
NM_001195798.1:c.191-329_191-328dup	NP_001182727.1:n.191-329_191-328dup
NM_001195799.1:c.190+1990_190+1991dup	NP_001182728.1:n.190+1990_190+1991dup
NM_001195800.1:c.191-329_191-328dup	NP_001182729.1:n.191-329_191-328dup
NM_001195803.1:c.191-329_191-328dup	NP_001182732.1:n.191-329_191-328dup
XM_011528010.1:c.191-329_191-328dup	XP_011526312.1:n.191-329_191-328dup
XM_011528011.1:c.191-329_191-328dup	XP_011526313.1:n.191-329_191-328dup
XR_244074.2:n.341-329_341-328dup
XM_011528010.2:c.191-329_191-328dup	XP_011526312.1:n.191-329_191-328dup
XR_001753685.2:n.308-329_308-328dup
XR_001753686.2:n.308-329_308-328dup
NM_000527.5:c.191-329_191-328dup MANE Select	NP_000518.1:n.191-329_191-328dup
NM_001195798.2:c.191-329_191-328dup	NP_001182727.1:n.191-329_191-328dup
NM_001195799.2:c.190+1990_190+1991dup	NP_001182728.1:n.190+1990_190+1991dup
NM_001195800.2:c.191-329_191-328dup	NP_001182729.1:n.191-329_191-328dup
NM_001195803.2:c.191-329_191-328dup	NP_001182732.1:n.191-329_191-328dup