Canonical Allele Identifier: CA632115399

Gene: LDLR

Linked Data

• dbSNP Id: rs1568610574
• gnomAD v2: 19-11230649-T-TCAAACAAA
• gnomAD v3: 19-11119973-T-TCAAACAAA
• gnomAD v4: 19-11119973-T-TCAAACAAA
• MyVariant Identifiers: chr19:g.11230650delinsCAAACAAAG (hg19) ; chr19:g.11119974delinsCAAACAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119973_11119974insCAAACAAA , CM000681.2:g.11119973_11119974insCAAACAAA	GRCh38
NC_000019.9:g.11230649_11230650insCAAACAAA , CM000681.1:g.11230649_11230650insCAAACAAA	GRCh37
NC_000019.8:g.11091649_11091650insCAAACAAA	NCBI36
NG_009060.1:g.35593_35594insCAAACAAA , LRG_274:g.35593_35594insCAAACAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-119_2104-118insCAAACAAA	ENSP00000252444.6:n.2104-119_2104-118insCAAACAAA
ENST00000559340.2:c.1706-119_1706-118insCAAACAAA	ENSP00000453696.2:n.1706-119_1706-118insCAAACAAA
ENST00000560467.2:c.1726-119_1726-118insCAAACAAA	ENSP00000453513.2:n.1726-119_1726-118insCAAACAAA
ENST00000558518.6:c.1846-119_1846-118insCAAACAAA MANE Select	ENSP00000454071.1:n.1846-119_1846-118insCAAACAAA
ENST00000252444.9:c.2100-119_2100-118insCAAACAAA
ENST00000455727.6:c.1342-119_1342-118insCAAACAAA	ENSP00000397829.2:n.1342-119_1342-118insCAAACAAA
ENST00000535915.5:c.1723-119_1723-118insCAAACAAA	ENSP00000440520.1:n.1723-119_1723-118insCAAACAAA
ENST00000545707.5:c.1465-119_1465-118insCAAACAAA	ENSP00000437639.1:n.1465-119_1465-118insCAAACAAA
ENST00000557933.5:c.1846-119_1846-118insCAAACAAA	ENSP00000453557.1:n.1846-119_1846-118insCAAACAAA
ENST00000558013.5:c.1846-119_1846-118insCAAACAAA	ENSP00000453346.1:n.1846-119_1846-118insCAAACAAA
ENST00000558518.5:c.1846-119_1846-118insCAAACAAA	ENSP00000454071.1:n.1846-119_1846-118insCAAACAAA
ENST00000559340.1:c.427-119_427-118insCAAACAAA
NM_000527.4:c.1846-119_1846-118insCAAACAAA , LRG_274t1:c.1846-119_1846-118insCAAACAAA	NP_000518.1:n.1846-119_1846-118insCAAACAAA
NM_001195798.1:c.1846-119_1846-118insCAAACAAA	NP_001182727.1:n.1846-119_1846-118insCAAACAAA
NM_001195799.1:c.1723-119_1723-118insCAAACAAA	NP_001182728.1:n.1723-119_1723-118insCAAACAAA
NM_001195800.1:c.1342-119_1342-118insCAAACAAA	NP_001182729.1:n.1342-119_1342-118insCAAACAAA
NM_001195803.1:c.1465-119_1465-118insCAAACAAA	NP_001182732.1:n.1465-119_1465-118insCAAACAAA
XM_011528010.1:c.1846-119_1846-118insCAAACAAA	XP_011526312.1:n.1846-119_1846-118insCAAACAAA
XM_011528011.1:c.1465-119_1465-118insCAAACAAA	XP_011526313.1:n.1465-119_1465-118insCAAACAAA
XR_244074.2:n.1856-119_1856-118insCAAACAAA
XM_011528010.2:c.1846-119_1846-118insCAAACAAA	XP_011526312.1:n.1846-119_1846-118insCAAACAAA
XR_001753685.2:n.1963-119_1963-118insCAAACAAA
XR_001753686.2:n.1823-119_1823-118insCAAACAAA
NM_000527.5:c.1846-119_1846-118insCAAACAAA MANE Select	NP_000518.1:n.1846-119_1846-118insCAAACAAA
NM_001195798.2:c.1846-119_1846-118insCAAACAAA	NP_001182727.1:n.1846-119_1846-118insCAAACAAA
NM_001195799.2:c.1723-119_1723-118insCAAACAAA	NP_001182728.1:n.1723-119_1723-118insCAAACAAA
NM_001195800.2:c.1342-119_1342-118insCAAACAAA	NP_001182729.1:n.1342-119_1342-118insCAAACAAA
NM_001195803.2:c.1465-119_1465-118insCAAACAAA	NP_001182732.1:n.1465-119_1465-118insCAAACAAA