Canonical Allele Identifier: CA2582474578

Gene: LDLR MIR6886

Linked Data

• gnomAD v4: 19-11113486-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113487dup , CM000681.2:g.11113487dup	GRCh38
NC_000019.9:g.11224163dup , CM000681.1:g.11224163dup	GRCh37
NC_000019.8:g.11085163dup	NCBI36
NG_009060.1:g.29107dup , LRG_274:g.29107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1616+38dup (LDLR)	ENSP00000252444.6:n.1616+38dup
ENST00000559340.2:c.1358+38dup (LDLR)	ENSP00000453696.2:n.1358+38dup
ENST00000560467.2:c.1238+38dup (LDLR)	ENSP00000453513.2:n.1238+38dup
ENST00000558518.6:c.1358+38dup (LDLR) MANE Select	ENSP00000454071.1:n.1358+38dup
ENST00000252444.9:c.1612+38dup (LDLR)
ENST00000455727.6:c.854+38dup (LDLR)	ENSP00000397829.2:n.854+38dup
ENST00000535915.5:c.1235+38dup (LDLR)	ENSP00000440520.1:n.1235+38dup
ENST00000545707.5:c.977+38dup (LDLR)	ENSP00000437639.1:n.977+38dup
ENST00000557933.5:c.1358+38dup (LDLR)	ENSP00000453557.1:n.1358+38dup
ENST00000558013.5:c.1358+38dup (LDLR)	ENSP00000453346.1:n.1358+38dup
ENST00000558518.5:c.1358+38dup (LDLR)	ENSP00000454071.1:n.1358+38dup
ENST00000559340.1:c.79+38dup (LDLR)
ENST00000560467.1:c.838+38dup (LDLR)
NM_000527.4:c.1358+38dup , LRG_274t1:c.1358+38dup (LDLR)	NP_000518.1:n.1358+38dup
NM_001195798.1:c.1358+38dup (LDLR)	NP_001182727.1:n.1358+38dup
NM_001195799.1:c.1235+38dup (LDLR)	NP_001182728.1:n.1235+38dup
NM_001195800.1:c.854+38dup (LDLR)	NP_001182729.1:n.854+38dup
NM_001195803.1:c.977+38dup (LDLR)	NP_001182732.1:n.977+38dup
NR_106946.1:n.14dup (MIR6886)
XM_011528010.1:c.1358+38dup (LDLR)	XP_011526312.1:n.1358+38dup
XM_011528011.1:c.977+38dup (LDLR)	XP_011526313.1:n.977+38dup
XR_244074.2:n.1508+38dup (LDLR)
XM_011528010.2:c.1358+38dup (LDLR)	XP_011526312.1:n.1358+38dup
XR_001753685.2:n.1475+38dup (LDLR)
XR_001753686.2:n.1475+38dup (LDLR)
NM_000527.5:c.1358+38dup (LDLR) MANE Select	NP_000518.1:n.1358+38dup
NM_001195798.2:c.1358+38dup (LDLR)	NP_001182727.1:n.1358+38dup
NM_001195799.2:c.1235+38dup (LDLR)	NP_001182728.1:n.1235+38dup
NM_001195800.2:c.854+38dup (LDLR)	NP_001182729.1:n.854+38dup
NM_001195803.2:c.977+38dup (LDLR)	NP_001182732.1:n.977+38dup