Canonical Allele Identifier: CA632115400

Gene: LDLR

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119973_11119974insCAAA , CM000681.2:g.11119973_11119974insCAAA	GRCh38
NC_000019.9:g.11230649_11230650insCAAA , CM000681.1:g.11230649_11230650insCAAA	GRCh37
NC_000019.8:g.11091649_11091650insCAAA	NCBI36
NG_009060.1:g.35593_35594insCAAA , LRG_274:g.35593_35594insCAAA

Transcript Alleles

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