Canonical Allele Identifier: CA2322777323

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123410_11123411delinsAT , CM000681.2:g.11123410_11123411delinsAT	GRCh38
NC_000019.9:g.11234086_11234087delinsAT , CM000681.1:g.11234086_11234087delinsAT	GRCh37
NC_000019.8:g.11095086_11095087delinsAT	NCBI36
NG_009060.1:g.39030_39031delinsAT , LRG_274:g.39030_39031delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+66_2569+67delinsAT	ENSP00000252444.6:n.2569+66_2569+67delinsAT
ENST00000559340.2:c.*380+66_*380+67delinsAT	ENSP00000453696.2:n.*380+66_*380+67delinsAT
ENST00000560467.2:c.2191+66_2191+67delinsAT	ENSP00000453513.2:n.2191+66_2191+67delinsAT
ENST00000558518.6:c.2311+66_2311+67delinsAT MANE Select	ENSP00000454071.1:n.2311+66_2311+67delinsAT
ENST00000252444.9:c.2565+66_2565+67delinsAT
ENST00000455727.6:c.1807+66_1807+67delinsAT	ENSP00000397829.2:n.1807+66_1807+67delinsAT
ENST00000535915.5:c.2188+66_2188+67delinsAT	ENSP00000440520.1:n.2188+66_2188+67delinsAT
ENST00000545707.5:c.1777+66_1777+67delinsAT	ENSP00000437639.1:n.1777+66_1777+67delinsAT
ENST00000557933.5:c.2311+66_2311+67delinsAT	ENSP00000453557.1:n.2311+66_2311+67delinsAT
ENST00000558013.5:c.2311+66_2311+67delinsAT	ENSP00000453346.1:n.2311+66_2311+67delinsAT
ENST00000558518.5:c.2311+66_2311+67delinsAT	ENSP00000454071.1:n.2311+66_2311+67delinsAT
NM_000527.4:c.2311+66_2311+67delinsAT , LRG_274t1:c.2311+66_2311+67delinsAT	NP_000518.1:n.2311+66_2311+67delinsAT
NM_001195798.1:c.2311+66_2311+67delinsAT	NP_001182727.1:n.2311+66_2311+67delinsAT
NM_001195799.1:c.2188+66_2188+67delinsAT	NP_001182728.1:n.2188+66_2188+67delinsAT
NM_001195800.1:c.1807+66_1807+67delinsAT	NP_001182729.1:n.1807+66_1807+67delinsAT
NM_001195803.1:c.1777+66_1777+67delinsAT	NP_001182732.1:n.1777+66_1777+67delinsAT
XM_011528010.1:c.2311+66_2311+67delinsAT	XP_011526312.1:n.2311+66_2311+67delinsAT
XM_011528011.1:c.1930+66_1930+67delinsAT	XP_011526313.1:n.1930+66_1930+67delinsAT
XR_244074.2:n.2321+66_2321+67delinsAT
XM_011528010.2:c.2311+66_2311+67delinsAT	XP_011526312.1:n.2311+66_2311+67delinsAT
XR_001753685.2:n.2645+66_2645+67delinsAT
XR_001753686.2:n.2288+66_2288+67delinsAT
NM_000527.5:c.2311+66_2311+67delinsAT MANE Select	NP_000518.1:n.2311+66_2311+67delinsAT
NM_001195798.2:c.2311+66_2311+67delinsAT	NP_001182727.1:n.2311+66_2311+67delinsAT
NM_001195799.2:c.2188+66_2188+67delinsAT	NP_001182728.1:n.2188+66_2188+67delinsAT
NM_001195800.2:c.1807+66_1807+67delinsAT	NP_001182729.1:n.1807+66_1807+67delinsAT
NM_001195803.2:c.1777+66_1777+67delinsAT	NP_001182732.1:n.1777+66_1777+67delinsAT