Canonical Allele Identifier: CA2563728209

Gene: LDLR

Linked Data

• gnomAD v4: 19-11116774-TGCCCGGAGCAGCGTGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116775_11116791del , CM000681.2:g.11116775_11116791del	GRCh38
NC_000019.9:g.11227451_11227467del , CM000681.1:g.11227451_11227467del	GRCh37
NC_000019.8:g.11088451_11088467del	NCBI36
NG_009060.1:g.32395_32411del , LRG_274:g.32395_32411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964-84_1964-68del	ENSP00000252444.6:n.1964-84_1964-68del
ENST00000559340.2:c.1705+563_1705+579del	ENSP00000453696.2:n.1705+563_1705+579del
ENST00000560467.2:c.1586-84_1586-68del	ENSP00000453513.2:n.1586-84_1586-68del
ENST00000558518.6:c.1706-84_1706-68del MANE Select	ENSP00000454071.1:n.1706-84_1706-68del
ENST00000252444.9:c.1960-84_1960-68del
ENST00000455727.6:c.1202-84_1202-68del	ENSP00000397829.2:n.1202-84_1202-68del
ENST00000535915.5:c.1583-84_1583-68del	ENSP00000440520.1:n.1583-84_1583-68del
ENST00000545707.5:c.1325-84_1325-68del	ENSP00000437639.1:n.1325-84_1325-68del
ENST00000557933.5:c.1706-84_1706-68del	ENSP00000453557.1:n.1706-84_1706-68del
ENST00000558013.5:c.1706-84_1706-68del	ENSP00000453346.1:n.1706-84_1706-68del
ENST00000558518.5:c.1706-84_1706-68del	ENSP00000454071.1:n.1706-84_1706-68del
ENST00000559340.1:c.426+563_426+579del
NM_000527.4:c.1706-84_1706-68del , LRG_274t1:c.1706-84_1706-68del	NP_000518.1:n.1706-84_1706-68del
NM_001195798.1:c.1706-84_1706-68del	NP_001182727.1:n.1706-84_1706-68del
NM_001195799.1:c.1583-84_1583-68del	NP_001182728.1:n.1583-84_1583-68del
NM_001195800.1:c.1202-84_1202-68del	NP_001182729.1:n.1202-84_1202-68del
NM_001195803.1:c.1325-84_1325-68del	NP_001182732.1:n.1325-84_1325-68del
XM_011528010.1:c.1706-84_1706-68del	XP_011526312.1:n.1706-84_1706-68del
XM_011528011.1:c.1325-84_1325-68del	XP_011526313.1:n.1325-84_1325-68del
XR_244074.2:n.1855+563_1855+579del
XM_011528010.2:c.1706-84_1706-68del	XP_011526312.1:n.1706-84_1706-68del
XR_001753685.2:n.1823-84_1823-68del
XR_001753686.2:n.1822+563_1822+579del
NM_000527.5:c.1706-84_1706-68del MANE Select	NP_000518.1:n.1706-84_1706-68del
NM_001195798.2:c.1706-84_1706-68del	NP_001182727.1:n.1706-84_1706-68del
NM_001195799.2:c.1583-84_1583-68del	NP_001182728.1:n.1583-84_1583-68del
NM_001195800.2:c.1202-84_1202-68del	NP_001182729.1:n.1202-84_1202-68del
NM_001195803.2:c.1325-84_1325-68del	NP_001182732.1:n.1325-84_1325-68del