Canonical Allele Identifier: CA2582475126

Gene: LDLR

Linked Data

• gnomAD v4: 19-11117026-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117027_11117028del , CM000681.2:g.11117027_11117028del	GRCh38
NC_000019.9:g.11227703_11227704del , CM000681.1:g.11227703_11227704del	GRCh37
NC_000019.8:g.11088703_11088704del	NCBI36
NG_009060.1:g.32647_32648del , LRG_274:g.32647_32648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+29_2103+30del	ENSP00000252444.6:n.2103+29_2103+30del
ENST00000559340.2:c.1705+815_1705+816del	ENSP00000453696.2:n.1705+815_1705+816del
ENST00000560467.2:c.1725+29_1725+30del	ENSP00000453513.2:n.1725+29_1725+30del
ENST00000558518.6:c.1845+29_1845+30del MANE Select	ENSP00000454071.1:n.1845+29_1845+30del
ENST00000252444.9:c.2099+29_2099+30del
ENST00000455727.6:c.1341+29_1341+30del	ENSP00000397829.2:n.1341+29_1341+30del
ENST00000535915.5:c.1722+29_1722+30del	ENSP00000440520.1:n.1722+29_1722+30del
ENST00000545707.5:c.1464+29_1464+30del	ENSP00000437639.1:n.1464+29_1464+30del
ENST00000557933.5:c.1845+29_1845+30del	ENSP00000453557.1:n.1845+29_1845+30del
ENST00000558013.5:c.1845+29_1845+30del	ENSP00000453346.1:n.1845+29_1845+30del
ENST00000558518.5:c.1845+29_1845+30del	ENSP00000454071.1:n.1845+29_1845+30del
ENST00000559340.1:c.426+815_426+816del
NM_000527.4:c.1845+29_1845+30del , LRG_274t1:c.1845+29_1845+30del	NP_000518.1:n.1845+29_1845+30del
NM_001195798.1:c.1845+29_1845+30del	NP_001182727.1:n.1845+29_1845+30del
NM_001195799.1:c.1722+29_1722+30del	NP_001182728.1:n.1722+29_1722+30del
NM_001195800.1:c.1341+29_1341+30del	NP_001182729.1:n.1341+29_1341+30del
NM_001195803.1:c.1464+29_1464+30del	NP_001182732.1:n.1464+29_1464+30del
XM_011528010.1:c.1845+29_1845+30del	XP_011526312.1:n.1845+29_1845+30del
XM_011528011.1:c.1464+29_1464+30del	XP_011526313.1:n.1464+29_1464+30del
XR_244074.2:n.1855+815_1855+816del
XM_011528010.2:c.1845+29_1845+30del	XP_011526312.1:n.1845+29_1845+30del
XR_001753685.2:n.1962+29_1962+30del
XR_001753686.2:n.1822+815_1822+816del
NM_000527.5:c.1845+29_1845+30del MANE Select	NP_000518.1:n.1845+29_1845+30del
NM_001195798.2:c.1845+29_1845+30del	NP_001182727.1:n.1845+29_1845+30del
NM_001195799.2:c.1722+29_1722+30del	NP_001182728.1:n.1722+29_1722+30del
NM_001195800.2:c.1341+29_1341+30del	NP_001182729.1:n.1341+29_1341+30del
NM_001195803.2:c.1464+29_1464+30del	NP_001182732.1:n.1464+29_1464+30del