Canonical Allele Identifier: CA2582474650

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113774-C-CATGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113774_11113775insATGGT , CM000681.2:g.11113774_11113775insATGGT	GRCh38
NC_000019.9:g.11224450_11224451insATGGT , CM000681.1:g.11224450_11224451insATGGT	GRCh37
NC_000019.8:g.11085450_11085451insATGGT	NCBI36
NG_009060.1:g.29394_29395insATGGT , LRG_274:g.29394_29395insATGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1844+12_1844+13insATGGT	ENSP00000252444.6:n.1844+12_1844+13insATG...
ENST00000559340.2:c.1586+12_1586+13insATGGT	ENSP00000453696.2:n.1586+12_1586+13insATG...
ENST00000560467.2:c.1466+12_1466+13insATGGT	ENSP00000453513.2:n.1466+12_1466+13insATG...
ENST00000558518.6:c.1586+12_1586+13insATGGT MANE Select	ENSP00000454071.1:n.1586+12_1586+13insATG...
ENST00000252444.9:c.1840+12_1840+13insATGGT
ENST00000455727.6:c.1082+12_1082+13insATGGT	ENSP00000397829.2:n.1082+12_1082+13insATG...
ENST00000535915.5:c.1463+12_1463+13insATGGT	ENSP00000440520.1:n.1463+12_1463+13insATG...
ENST00000545707.5:c.1205+12_1205+13insATGGT	ENSP00000437639.1:n.1205+12_1205+13insATG...
ENST00000557933.5:c.1586+12_1586+13insATGGT	ENSP00000453557.1:n.1586+12_1586+13insATG...
ENST00000558013.5:c.1586+12_1586+13insATGGT	ENSP00000453346.1:n.1586+12_1586+13insATG...
ENST00000558518.5:c.1586+12_1586+13insATGGT	ENSP00000454071.1:n.1586+12_1586+13insATG...
ENST00000559340.1:c.307+12_307+13insATGGT
NM_000527.4:c.1586+12_1586+13insATGGT , LRG_274t1:c.1586+12_1586+13insATGGT	NP_000518.1:n.1586+12_1586+13insATGGT
NM_001195798.1:c.1586+12_1586+13insATGGT	NP_001182727.1:n.1586+12_1586+13insATGGT
NM_001195799.1:c.1463+12_1463+13insATGGT	NP_001182728.1:n.1463+12_1463+13insATGGT
NM_001195800.1:c.1082+12_1082+13insATGGT	NP_001182729.1:n.1082+12_1082+13insATGGT
NM_001195803.1:c.1205+12_1205+13insATGGT	NP_001182732.1:n.1205+12_1205+13insATGGT
XM_011528010.1:c.1586+12_1586+13insATGGT	XP_011526312.1:n.1586+12_1586+13insATGGT
XM_011528011.1:c.1205+12_1205+13insATGGT	XP_011526313.1:n.1205+12_1205+13insATGGT
XR_244074.2:n.1736+12_1736+13insATGGT
XM_011528010.2:c.1586+12_1586+13insATGGT	XP_011526312.1:n.1586+12_1586+13insATGGT
XR_001753685.2:n.1703+12_1703+13insATGGT
XR_001753686.2:n.1703+12_1703+13insATGGT
NM_000527.5:c.1586+12_1586+13insATGGT MANE Select	NP_000518.1:n.1586+12_1586+13insATGGT
NM_001195798.2:c.1586+12_1586+13insATGGT	NP_001182727.1:n.1586+12_1586+13insATGGT
NM_001195799.2:c.1463+12_1463+13insATGGT	NP_001182728.1:n.1463+12_1463+13insATGGT
NM_001195800.2:c.1082+12_1082+13insATGGT	NP_001182729.1:n.1082+12_1082+13insATGGT
NM_001195803.2:c.1205+12_1205+13insATGGT	NP_001182732.1:n.1205+12_1205+13insATGGT