Canonical Allele Identifier: CA2582474754

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113884-G-GCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113886_11113887insTCCC , CM000681.2:g.11113886_11113887insTCCC	GRCh38
NC_000019.9:g.11224562_11224563insTCCC , CM000681.1:g.11224562_11224563insTCCC	GRCh37
NC_000019.8:g.11085562_11085563insTCCC	NCBI36
NG_009060.1:g.29506_29507insTCCC , LRG_274:g.29506_29507insTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+124_1844+125insTCCC	ENSP00000252444.6:n.1844+124_1844+125insTCCC
ENST00000559340.2:c.1586+124_1586+125insTCCC	ENSP00000453696.2:n.1586+124_1586+125insTCCC
ENST00000560467.2:c.1466+124_1466+125insTCCC	ENSP00000453513.2:n.1466+124_1466+125insTCCC
ENST00000558518.6:c.1586+124_1586+125insTCCC MANE Select	ENSP00000454071.1:n.1586+124_1586+125insTCCC
ENST00000252444.9:c.1840+124_1840+125insTCCC
ENST00000455727.6:c.1082+124_1082+125insTCCC	ENSP00000397829.2:n.1082+124_1082+125insTCCC
ENST00000535915.5:c.1463+124_1463+125insTCCC	ENSP00000440520.1:n.1463+124_1463+125insTCCC
ENST00000545707.5:c.1205+124_1205+125insTCCC	ENSP00000437639.1:n.1205+124_1205+125insTCCC
ENST00000557933.5:c.1586+124_1586+125insTCCC	ENSP00000453557.1:n.1586+124_1586+125insTCCC
ENST00000558013.5:c.1586+124_1586+125insTCCC	ENSP00000453346.1:n.1586+124_1586+125insTCCC
ENST00000558518.5:c.1586+124_1586+125insTCCC	ENSP00000454071.1:n.1586+124_1586+125insTCCC
ENST00000559340.1:c.307+124_307+125insTCCC
NM_000527.4:c.1586+124_1586+125insTCCC , LRG_274t1:c.1586+124_1586+125insTCCC	NP_000518.1:n.1586+124_1586+125insTCCC
NM_001195798.1:c.1586+124_1586+125insTCCC	NP_001182727.1:n.1586+124_1586+125insTCCC
NM_001195799.1:c.1463+124_1463+125insTCCC	NP_001182728.1:n.1463+124_1463+125insTCCC
NM_001195800.1:c.1082+124_1082+125insTCCC	NP_001182729.1:n.1082+124_1082+125insTCCC
NM_001195803.1:c.1205+124_1205+125insTCCC	NP_001182732.1:n.1205+124_1205+125insTCCC
XM_011528010.1:c.1586+124_1586+125insTCCC	XP_011526312.1:n.1586+124_1586+125insTCCC
XM_011528011.1:c.1205+124_1205+125insTCCC	XP_011526313.1:n.1205+124_1205+125insTCCC
XR_244074.2:n.1736+124_1736+125insTCCC
XM_011528010.2:c.1586+124_1586+125insTCCC	XP_011526312.1:n.1586+124_1586+125insTCCC
XR_001753685.2:n.1703+124_1703+125insTCCC
XR_001753686.2:n.1703+124_1703+125insTCCC
NM_000527.5:c.1586+124_1586+125insTCCC MANE Select	NP_000518.1:n.1586+124_1586+125insTCCC
NM_001195798.2:c.1586+124_1586+125insTCCC	NP_001182727.1:n.1586+124_1586+125insTCCC
NM_001195799.2:c.1463+124_1463+125insTCCC	NP_001182728.1:n.1463+124_1463+125insTCCC
NM_001195800.2:c.1082+124_1082+125insTCCC	NP_001182729.1:n.1082+124_1082+125insTCCC
NM_001195803.2:c.1205+124_1205+125insTCCC	NP_001182732.1:n.1205+124_1205+125insTCCC