Canonical Allele Identifier: CA2582474688

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113817-CTTCAGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113818_11113825del , CM000681.2:g.11113818_11113825del	GRCh38
NC_000019.9:g.11224494_11224501del , CM000681.1:g.11224494_11224501del	GRCh37
NC_000019.8:g.11085494_11085501del	NCBI36
NG_009060.1:g.29438_29445del , LRG_274:g.29438_29445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+56_1844+63del	ENSP00000252444.6:n.1844+56_1844+63del
ENST00000559340.2:c.1586+56_1586+63del	ENSP00000453696.2:n.1586+56_1586+63del
ENST00000560467.2:c.1466+56_1466+63del	ENSP00000453513.2:n.1466+56_1466+63del
ENST00000558518.6:c.1586+56_1586+63del MANE Select	ENSP00000454071.1:n.1586+56_1586+63del
ENST00000252444.9:c.1840+56_1840+63del
ENST00000455727.6:c.1082+56_1082+63del	ENSP00000397829.2:n.1082+56_1082+63del
ENST00000535915.5:c.1463+56_1463+63del	ENSP00000440520.1:n.1463+56_1463+63del
ENST00000545707.5:c.1205+56_1205+63del	ENSP00000437639.1:n.1205+56_1205+63del
ENST00000557933.5:c.1586+56_1586+63del	ENSP00000453557.1:n.1586+56_1586+63del
ENST00000558013.5:c.1586+56_1586+63del	ENSP00000453346.1:n.1586+56_1586+63del
ENST00000558518.5:c.1586+56_1586+63del	ENSP00000454071.1:n.1586+56_1586+63del
ENST00000559340.1:c.307+56_307+63del
NM_000527.4:c.1586+56_1586+63del , LRG_274t1:c.1586+56_1586+63del	NP_000518.1:n.1586+56_1586+63del
NM_001195798.1:c.1586+56_1586+63del	NP_001182727.1:n.1586+56_1586+63del
NM_001195799.1:c.1463+56_1463+63del	NP_001182728.1:n.1463+56_1463+63del
NM_001195800.1:c.1082+56_1082+63del	NP_001182729.1:n.1082+56_1082+63del
NM_001195803.1:c.1205+56_1205+63del	NP_001182732.1:n.1205+56_1205+63del
XM_011528010.1:c.1586+56_1586+63del	XP_011526312.1:n.1586+56_1586+63del
XM_011528011.1:c.1205+56_1205+63del	XP_011526313.1:n.1205+56_1205+63del
XR_244074.2:n.1736+56_1736+63del
XM_011528010.2:c.1586+56_1586+63del	XP_011526312.1:n.1586+56_1586+63del
XR_001753685.2:n.1703+56_1703+63del
XR_001753686.2:n.1703+56_1703+63del
NM_000527.5:c.1586+56_1586+63del MANE Select	NP_000518.1:n.1586+56_1586+63del
NM_001195798.2:c.1586+56_1586+63del	NP_001182727.1:n.1586+56_1586+63del
NM_001195799.2:c.1463+56_1463+63del	NP_001182728.1:n.1463+56_1463+63del
NM_001195800.2:c.1082+56_1082+63del	NP_001182729.1:n.1082+56_1082+63del
NM_001195803.2:c.1205+56_1205+63del	NP_001182732.1:n.1205+56_1205+63del