Canonical Allele Identifier: CA404090973

Gene: LDLR

Linked Data

• dbSNP Id: rs199573103
• gnomAD v2: 19-11230349-C-CA
• gnomAD v3: 19-11119673-C-CA
• gnomAD v4: 19-11119673-C-CA
• MyVariant Identifiers: chr19:g.11230349_11230350insA (hg19) ; chr19:g.11119673_11119674insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119683dup , CM000681.2:g.11119683dup	GRCh38
NC_000019.9:g.11230359dup , CM000681.1:g.11230359dup	GRCh37
NC_000019.8:g.11091359dup	NCBI36
NG_009060.1:g.35303dup , LRG_274:g.35303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-409dup	ENSP00000252444.6:n.2104-409dup
ENST00000559340.2:c.1706-409dup	ENSP00000453696.2:n.1706-409dup
ENST00000560467.2:c.1726-409dup	ENSP00000453513.2:n.1726-409dup
ENST00000558518.6:c.1846-409dup MANE Select	ENSP00000454071.1:n.1846-409dup
ENST00000252444.9:c.2100-409dup
ENST00000455727.6:c.1342-409dup	ENSP00000397829.2:n.1342-409dup
ENST00000535915.5:c.1723-409dup	ENSP00000440520.1:n.1723-409dup
ENST00000545707.5:c.1465-409dup	ENSP00000437639.1:n.1465-409dup
ENST00000557933.5:c.1846-409dup	ENSP00000453557.1:n.1846-409dup
ENST00000558013.5:c.1846-409dup	ENSP00000453346.1:n.1846-409dup
ENST00000558518.5:c.1846-409dup	ENSP00000454071.1:n.1846-409dup
ENST00000559340.1:c.427-409dup
NM_000527.4:c.1846-409dup , LRG_274t1:c.1846-409dup	NP_000518.1:n.1846-409dup
NM_001195798.1:c.1846-409dup	NP_001182727.1:n.1846-409dup
NM_001195799.1:c.1723-409dup	NP_001182728.1:n.1723-409dup
NM_001195800.1:c.1342-409dup	NP_001182729.1:n.1342-409dup
NM_001195803.1:c.1465-409dup	NP_001182732.1:n.1465-409dup
XM_011528010.1:c.1846-409dup	XP_011526312.1:n.1846-409dup
XM_011528011.1:c.1465-409dup	XP_011526313.1:n.1465-409dup
XR_244074.2:n.1856-409dup
XM_011528010.2:c.1846-409dup	XP_011526312.1:n.1846-409dup
XR_001753685.2:n.1963-409dup
XR_001753686.2:n.1823-409dup
NM_000527.5:c.1846-409dup MANE Select	NP_000518.1:n.1846-409dup
NM_001195798.2:c.1846-409dup	NP_001182727.1:n.1846-409dup
NM_001195799.2:c.1723-409dup	NP_001182728.1:n.1723-409dup
NM_001195800.2:c.1342-409dup	NP_001182729.1:n.1342-409dup
NM_001195803.2:c.1465-409dup	NP_001182732.1:n.1465-409dup