Canonical Allele Identifier: CA632115394

Gene: LDLR

Linked Data

• dbSNP Id: rs1291728604
• gnomAD v2: 19-11215984-C-CT
• gnomAD v4: 19-11105308-C-CT
• MyVariant Identifiers: chr19:g.11215984_11215985insT (hg19) ; chr19:g.11105308_11105309insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105310dup , CM000681.2:g.11105310dup	GRCh38
NC_000019.9:g.11215986dup , CM000681.1:g.11215986dup	GRCh37
NC_000019.8:g.11076986dup	NCBI36
NG_009060.1:g.20930dup , LRG_274:g.20930dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.662dup	ENSP00000252444.6:p.Leu221PhefsTer?
ENST00000559340.2:c.404dup	ENSP00000453696.2:p.Leu135PhefsTer?
ENST00000560467.2:c.404dup	ENSP00000453513.2:p.Leu135PhefsTer?
ENST00000558518.6:c.404dup MANE Select	ENSP00000454071.1:p.Leu135PhefsTer?
ENST00000252444.9:c.658dup
ENST00000455727.6:c.314-2082dup	ENSP00000397829.2:n.314-2082dup
ENST00000535915.5:c.281dup	ENSP00000440520.1:p.Leu94PhefsTer?
ENST00000545707.5:c.314-1255dup	ENSP00000437639.1:n.314-1255dup
ENST00000557933.5:c.404dup	ENSP00000453557.1:p.Leu135PhefsTer?
ENST00000558013.5:c.404dup	ENSP00000453346.1:p.Leu135PhefsTer?
ENST00000558518.5:c.404dup	ENSP00000454071.1:p.Leu135PhefsTer?
ENST00000560467.1:c.4dup
NM_000527.4:c.404dup , LRG_274t1:c.404dup	NP_000518.1:p.Leu135PhefsTer?
NM_001195798.1:c.404dup	NP_001182727.1:p.Leu135PhefsTer?
NM_001195799.1:c.281dup	NP_001182728.1:p.Leu94PhefsTer?
NM_001195800.1:c.314-2082dup	NP_001182729.1:n.314-2082dup
NM_001195803.1:c.314-1255dup	NP_001182732.1:n.314-1255dup
XM_011528010.1:c.404dup	XP_011526312.1:p.Leu135PhefsTer?
XM_011528011.1:c.314-1255dup	XP_011526313.1:n.314-1255dup
XR_244074.2:n.554dup
XM_011528010.2:c.404dup	XP_011526312.1:p.Leu135PhefsTer?
XR_001753685.2:n.521dup
XR_001753686.2:n.521dup
NM_000527.5:c.404dup MANE Select	NP_000518.1:p.Leu135PhefsTer?
NM_001195798.2:c.404dup	NP_001182727.1:p.Leu135PhefsTer?
NM_001195799.2:c.281dup	NP_001182728.1:p.Leu94PhefsTer?
NM_001195800.2:c.314-2082dup	NP_001182729.1:n.314-2082dup
NM_001195803.2:c.314-1255dup	NP_001182732.1:n.314-1255dup