Canonical Allele Identifier: CA2322775275

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119983_11119986delinsAAAC , CM000681.2:g.11119983_11119986delinsAAAC	GRCh38
NC_000019.9:g.11230659_11230662delinsAAAC , CM000681.1:g.11230659_11230662delinsAAAC	GRCh37
NC_000019.8:g.11091659_11091662delinsAAAC	NCBI36
NG_009060.1:g.35603_35606delinsAAAC , LRG_274:g.35603_35606delinsAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-109_2104-106delinsAAAC	ENSP00000252444.6:n.2104-109_2104-106delinsAAAC
ENST00000559340.2:c.1706-109_1706-106delinsAAAC	ENSP00000453696.2:n.1706-109_1706-106delinsAAAC
ENST00000560467.2:c.1726-109_1726-106delinsAAAC	ENSP00000453513.2:n.1726-109_1726-106delinsAAAC
ENST00000558518.6:c.1846-109_1846-106delinsAAAC MANE Select	ENSP00000454071.1:n.1846-109_1846-106delinsAAAC
ENST00000252444.9:c.2100-109_2100-106delinsAAAC
ENST00000455727.6:c.1342-109_1342-106delinsAAAC	ENSP00000397829.2:n.1342-109_1342-106delinsAAAC
ENST00000535915.5:c.1723-109_1723-106delinsAAAC	ENSP00000440520.1:n.1723-109_1723-106delinsAAAC
ENST00000545707.5:c.1465-109_1465-106delinsAAAC	ENSP00000437639.1:n.1465-109_1465-106delinsAAAC
ENST00000557933.5:c.1846-109_1846-106delinsAAAC	ENSP00000453557.1:n.1846-109_1846-106delinsAAAC
ENST00000558013.5:c.1846-109_1846-106delinsAAAC	ENSP00000453346.1:n.1846-109_1846-106delinsAAAC
ENST00000558518.5:c.1846-109_1846-106delinsAAAC	ENSP00000454071.1:n.1846-109_1846-106delinsAAAC
ENST00000559340.1:c.427-109_427-106delinsAAAC
NM_000527.4:c.1846-109_1846-106delinsAAAC , LRG_274t1:c.1846-109_1846-106delinsAAAC	NP_000518.1:n.1846-109_1846-106delinsAAAC
NM_001195798.1:c.1846-109_1846-106delinsAAAC	NP_001182727.1:n.1846-109_1846-106delinsAAAC
NM_001195799.1:c.1723-109_1723-106delinsAAAC	NP_001182728.1:n.1723-109_1723-106delinsAAAC
NM_001195800.1:c.1342-109_1342-106delinsAAAC	NP_001182729.1:n.1342-109_1342-106delinsAAAC
NM_001195803.1:c.1465-109_1465-106delinsAAAC	NP_001182732.1:n.1465-109_1465-106delinsAAAC
XM_011528010.1:c.1846-109_1846-106delinsAAAC	XP_011526312.1:n.1846-109_1846-106delinsAAAC
XM_011528011.1:c.1465-109_1465-106delinsAAAC	XP_011526313.1:n.1465-109_1465-106delinsAAAC
XR_244074.2:n.1856-109_1856-106delinsAAAC
XM_011528010.2:c.1846-109_1846-106delinsAAAC	XP_011526312.1:n.1846-109_1846-106delinsAAAC
XR_001753685.2:n.1963-109_1963-106delinsAAAC
XR_001753686.2:n.1823-109_1823-106delinsAAAC
NM_000527.5:c.1846-109_1846-106delinsAAAC MANE Select	NP_000518.1:n.1846-109_1846-106delinsAAAC
NM_001195798.2:c.1846-109_1846-106delinsAAAC	NP_001182727.1:n.1846-109_1846-106delinsAAAC
NM_001195799.2:c.1723-109_1723-106delinsAAAC	NP_001182728.1:n.1723-109_1723-106delinsAAAC
NM_001195800.2:c.1342-109_1342-106delinsAAAC	NP_001182729.1:n.1342-109_1342-106delinsAAAC
NM_001195803.2:c.1465-109_1465-106delinsAAAC	NP_001182732.1:n.1465-109_1465-106delinsAAAC