Canonical Allele Identifier: CA2322766182

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11103011_11103012delinsAG , CM000681.2:g.11103011_11103012delinsAG	GRCh38
NC_000019.9:g.11213687_11213688delinsAG , CM000681.1:g.11213687_11213688delinsAG	GRCh37
NC_000019.8:g.11074687_11074688delinsAG	NCBI36
NG_009060.1:g.18631_18632delinsAG , LRG_274:g.18631_18632delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571+225_571+226delinsAG	ENSP00000252444.6:n.571+225_571+226delinsAG
ENST00000559340.2:c.313+225_313+226delinsAG	ENSP00000453696.2:n.313+225_313+226delinsAG
ENST00000560467.2:c.313+225_313+226delinsAG	ENSP00000453513.2:n.313+225_313+226delinsAG
ENST00000558518.6:c.313+225_313+226delinsAG MANE Select	ENSP00000454071.1:n.313+225_313+226delinsAG
ENST00000252444.9:c.567+225_567+226delinsAG
ENST00000455727.6:c.313+225_313+226delinsAG	ENSP00000397829.2:n.313+225_313+226delinsAG
ENST00000535915.5:c.191-2209_191-2208delinsAG	ENSP00000440520.1:n.191-2209_191-2208delinsAG
ENST00000545707.5:c.313+225_313+226delinsAG	ENSP00000437639.1:n.313+225_313+226delinsAG
ENST00000557933.5:c.313+225_313+226delinsAG	ENSP00000453557.1:n.313+225_313+226delinsAG
ENST00000557958.1:n.624_625delinsAG
ENST00000558013.5:c.313+225_313+226delinsAG	ENSP00000453346.1:n.313+225_313+226delinsAG
ENST00000558518.5:c.313+225_313+226delinsAG	ENSP00000454071.1:n.313+225_313+226delinsAG
NM_000527.4:c.313+225_313+226delinsAG , LRG_274t1:c.313+225_313+226delinsAG	NP_000518.1:n.313+225_313+226delinsAG
NM_001195798.1:c.313+225_313+226delinsAG	NP_001182727.1:n.313+225_313+226delinsAG
NM_001195799.1:c.191-2209_191-2208delinsAG	NP_001182728.1:n.191-2209_191-2208delinsAG
NM_001195800.1:c.313+225_313+226delinsAG	NP_001182729.1:n.313+225_313+226delinsAG
NM_001195803.1:c.313+225_313+226delinsAG	NP_001182732.1:n.313+225_313+226delinsAG
XM_011528010.1:c.313+225_313+226delinsAG	XP_011526312.1:n.313+225_313+226delinsAG
XM_011528011.1:c.313+225_313+226delinsAG	XP_011526313.1:n.313+225_313+226delinsAG
XR_244074.2:n.463+225_463+226delinsAG
XM_011528010.2:c.313+225_313+226delinsAG	XP_011526312.1:n.313+225_313+226delinsAG
XR_001753685.2:n.430+225_430+226delinsAG
XR_001753686.2:n.430+225_430+226delinsAG
NM_000527.5:c.313+225_313+226delinsAG MANE Select	NP_000518.1:n.313+225_313+226delinsAG
NM_001195798.2:c.313+225_313+226delinsAG	NP_001182727.1:n.313+225_313+226delinsAG
NM_001195799.2:c.191-2209_191-2208delinsAG	NP_001182728.1:n.191-2209_191-2208delinsAG
NM_001195800.2:c.313+225_313+226delinsAG	NP_001182729.1:n.313+225_313+226delinsAG
NM_001195803.2:c.313+225_313+226delinsAG	NP_001182732.1:n.313+225_313+226delinsAG