Canonical Allele Identifier: CA2322775268

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119975_11119978delinsAAAC , CM000681.2:g.11119975_11119978delinsAAAC	GRCh38
NC_000019.9:g.11230651_11230654delinsAAAC , CM000681.1:g.11230651_11230654delinsAAAC	GRCh37
NC_000019.8:g.11091651_11091654delinsAAAC	NCBI36
NG_009060.1:g.35595_35598delinsAAAC , LRG_274:g.35595_35598delinsAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-117_2104-114delinsAAAC	ENSP00000252444.6:n.2104-117_2104-114delinsAAAC
ENST00000559340.2:c.1706-117_1706-114delinsAAAC	ENSP00000453696.2:n.1706-117_1706-114delinsAAAC
ENST00000560467.2:c.1726-117_1726-114delinsAAAC	ENSP00000453513.2:n.1726-117_1726-114delinsAAAC
ENST00000558518.6:c.1846-117_1846-114delinsAAAC MANE Select	ENSP00000454071.1:n.1846-117_1846-114delinsAAAC
ENST00000252444.9:c.2100-117_2100-114delinsAAAC
ENST00000455727.6:c.1342-117_1342-114delinsAAAC	ENSP00000397829.2:n.1342-117_1342-114delinsAAAC
ENST00000535915.5:c.1723-117_1723-114delinsAAAC	ENSP00000440520.1:n.1723-117_1723-114delinsAAAC
ENST00000545707.5:c.1465-117_1465-114delinsAAAC	ENSP00000437639.1:n.1465-117_1465-114delinsAAAC
ENST00000557933.5:c.1846-117_1846-114delinsAAAC	ENSP00000453557.1:n.1846-117_1846-114delinsAAAC
ENST00000558013.5:c.1846-117_1846-114delinsAAAC	ENSP00000453346.1:n.1846-117_1846-114delinsAAAC
ENST00000558518.5:c.1846-117_1846-114delinsAAAC	ENSP00000454071.1:n.1846-117_1846-114delinsAAAC
ENST00000559340.1:c.427-117_427-114delinsAAAC
NM_000527.4:c.1846-117_1846-114delinsAAAC , LRG_274t1:c.1846-117_1846-114delinsAAAC	NP_000518.1:n.1846-117_1846-114delinsAAAC
NM_001195798.1:c.1846-117_1846-114delinsAAAC	NP_001182727.1:n.1846-117_1846-114delinsAAAC
NM_001195799.1:c.1723-117_1723-114delinsAAAC	NP_001182728.1:n.1723-117_1723-114delinsAAAC
NM_001195800.1:c.1342-117_1342-114delinsAAAC	NP_001182729.1:n.1342-117_1342-114delinsAAAC
NM_001195803.1:c.1465-117_1465-114delinsAAAC	NP_001182732.1:n.1465-117_1465-114delinsAAAC
XM_011528010.1:c.1846-117_1846-114delinsAAAC	XP_011526312.1:n.1846-117_1846-114delinsAAAC
XM_011528011.1:c.1465-117_1465-114delinsAAAC	XP_011526313.1:n.1465-117_1465-114delinsAAAC
XR_244074.2:n.1856-117_1856-114delinsAAAC
XM_011528010.2:c.1846-117_1846-114delinsAAAC	XP_011526312.1:n.1846-117_1846-114delinsAAAC
XR_001753685.2:n.1963-117_1963-114delinsAAAC
XR_001753686.2:n.1823-117_1823-114delinsAAAC
NM_000527.5:c.1846-117_1846-114delinsAAAC MANE Select	NP_000518.1:n.1846-117_1846-114delinsAAAC
NM_001195798.2:c.1846-117_1846-114delinsAAAC	NP_001182727.1:n.1846-117_1846-114delinsAAAC
NM_001195799.2:c.1723-117_1723-114delinsAAAC	NP_001182728.1:n.1723-117_1723-114delinsAAAC
NM_001195800.2:c.1342-117_1342-114delinsAAAC	NP_001182729.1:n.1342-117_1342-114delinsAAAC
NM_001195803.2:c.1465-117_1465-114delinsAAAC	NP_001182732.1:n.1465-117_1465-114delinsAAAC