Canonical Allele Identifier: CA2582475309

Gene: LDLR

Linked Data

• gnomAD v4: 19-11119986-C-CAAACAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119993_11119994insTAAACAAA , CM000681.2:g.11119993_11119994insTAAACAAA	GRCh38
NC_000019.9:g.11230669_11230670insTAAACAAA , CM000681.1:g.11230669_11230670insTAAACAAA	GRCh37
NC_000019.8:g.11091669_11091670insTAAACAAA	NCBI36
NG_009060.1:g.35613_35614insTAAACAAA , LRG_274:g.35613_35614insTAAACAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-99_2104-98insTAAACAAA	ENSP00000252444.6:n.2104-99_2104-98insTAA...
ENST00000559340.2:c.1706-99_1706-98insTAAACAAA	ENSP00000453696.2:n.1706-99_1706-98insTAA...
ENST00000560467.2:c.1726-99_1726-98insTAAACAAA	ENSP00000453513.2:n.1726-99_1726-98insTAA...
ENST00000558518.6:c.1846-99_1846-98insTAAACAAA MANE Select	ENSP00000454071.1:n.1846-99_1846-98insTAA...
ENST00000252444.9:c.2100-99_2100-98insTAAACAAA
ENST00000455727.6:c.1342-99_1342-98insTAAACAAA	ENSP00000397829.2:n.1342-99_1342-98insTAA...
ENST00000535915.5:c.1723-99_1723-98insTAAACAAA	ENSP00000440520.1:n.1723-99_1723-98insTAA...
ENST00000545707.5:c.1465-99_1465-98insTAAACAAA	ENSP00000437639.1:n.1465-99_1465-98insTAA...
ENST00000557933.5:c.1846-99_1846-98insTAAACAAA	ENSP00000453557.1:n.1846-99_1846-98insTAA...
ENST00000558013.5:c.1846-99_1846-98insTAAACAAA	ENSP00000453346.1:n.1846-99_1846-98insTAA...
ENST00000558518.5:c.1846-99_1846-98insTAAACAAA	ENSP00000454071.1:n.1846-99_1846-98insTAA...
ENST00000559340.1:c.427-99_427-98insTAAACAAA
NM_000527.4:c.1846-99_1846-98insTAAACAAA , LRG_274t1:c.1846-99_1846-98insTAAACAAA	NP_000518.1:n.1846-99_1846-98insTAAACAAA
NM_001195798.1:c.1846-99_1846-98insTAAACAAA	NP_001182727.1:n.1846-99_1846-98insTAAACA...
NM_001195799.1:c.1723-99_1723-98insTAAACAAA	NP_001182728.1:n.1723-99_1723-98insTAAACA...
NM_001195800.1:c.1342-99_1342-98insTAAACAAA	NP_001182729.1:n.1342-99_1342-98insTAAACA...
NM_001195803.1:c.1465-99_1465-98insTAAACAAA	NP_001182732.1:n.1465-99_1465-98insTAAACA...
XM_011528010.1:c.1846-99_1846-98insTAAACAAA	XP_011526312.1:n.1846-99_1846-98insTAAACA...
XM_011528011.1:c.1465-99_1465-98insTAAACAAA	XP_011526313.1:n.1465-99_1465-98insTAAACA...
XR_244074.2:n.1856-99_1856-98insTAAACAAA
XM_011528010.2:c.1846-99_1846-98insTAAACAAA	XP_011526312.1:n.1846-99_1846-98insTAAACA...
XR_001753685.2:n.1963-99_1963-98insTAAACAAA
XR_001753686.2:n.1823-99_1823-98insTAAACAAA
NM_000527.5:c.1846-99_1846-98insTAAACAAA MANE Select	NP_000518.1:n.1846-99_1846-98insTAAACAAA
NM_001195798.2:c.1846-99_1846-98insTAAACAAA	NP_001182727.1:n.1846-99_1846-98insTAAACA...
NM_001195799.2:c.1723-99_1723-98insTAAACAAA	NP_001182728.1:n.1723-99_1723-98insTAAACA...
NM_001195800.2:c.1342-99_1342-98insTAAACAAA	NP_001182729.1:n.1342-99_1342-98insTAAACA...
NM_001195803.2:c.1465-99_1465-98insTAAACAAA	NP_001182732.1:n.1465-99_1465-98insTAAACA...