Canonical Allele Identifier: CA2322770569

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111275_11111279delinsAAAAG , CM000681.2:g.11111275_11111279delinsAAAAG	GRCh38
NC_000019.9:g.11221951_11221955delinsAAAAG , CM000681.1:g.11221951_11221955delinsAAAAG	GRCh37
NC_000019.8:g.11082951_11082955delinsAAAAG	NCBI36
NG_009060.1:g.26895_26899delinsAAAAG , LRG_274:g.26895_26899delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1319-239_1319-235delinsAAAAG	ENSP00000252444.6:n.1319-239_1319-235delinsAAAAG
ENST00000559340.2:c.1061-239_1061-235delinsAAAAG	ENSP00000453696.2:n.1061-239_1061-235delinsAAAAG
ENST00000560467.2:c.941-239_941-235delinsAAAAG	ENSP00000453513.2:n.941-239_941-235delinsAAAAG
ENST00000558518.6:c.1061-239_1061-235delinsAAAAG MANE Select	ENSP00000454071.1:n.1061-239_1061-235delinsAAAAG
ENST00000252444.9:c.1315-239_1315-235delinsAAAAG
ENST00000455727.6:c.557-239_557-235delinsAAAAG	ENSP00000397829.2:n.557-239_557-235delinsAAAAG
ENST00000535915.5:c.938-239_938-235delinsAAAAG	ENSP00000440520.1:n.938-239_938-235delinsAAAAG
ENST00000545707.5:c.680-239_680-235delinsAAAAG	ENSP00000437639.1:n.680-239_680-235delinsAAAAG
ENST00000557933.5:c.1061-239_1061-235delinsAAAAG	ENSP00000453557.1:n.1061-239_1061-235delinsAAAAG
ENST00000558013.5:c.1061-239_1061-235delinsAAAAG	ENSP00000453346.1:n.1061-239_1061-235delinsAAAAG
ENST00000558518.5:c.1061-239_1061-235delinsAAAAG	ENSP00000454071.1:n.1061-239_1061-235delinsAAAAG
ENST00000560173.1:n.60-239_60-235delinsAAAAG
ENST00000560467.1:c.541-239_541-235delinsAAAAG
NM_000527.4:c.1061-239_1061-235delinsAAAAG , LRG_274t1:c.1061-239_1061-235delinsAAAAG	NP_000518.1:n.1061-239_1061-235delinsAAAAG
NM_001195798.1:c.1061-239_1061-235delinsAAAAG	NP_001182727.1:n.1061-239_1061-235delinsAAAAG
NM_001195799.1:c.938-239_938-235delinsAAAAG	NP_001182728.1:n.938-239_938-235delinsAAAAG
NM_001195800.1:c.557-239_557-235delinsAAAAG	NP_001182729.1:n.557-239_557-235delinsAAAAG
NM_001195803.1:c.680-239_680-235delinsAAAAG	NP_001182732.1:n.680-239_680-235delinsAAAAG
XM_011528010.1:c.1061-239_1061-235delinsAAAAG	XP_011526312.1:n.1061-239_1061-235delinsAAAAG
XM_011528011.1:c.680-239_680-235delinsAAAAG	XP_011526313.1:n.680-239_680-235delinsAAAAG
XR_244074.2:n.1211-239_1211-235delinsAAAAG
XM_011528010.2:c.1061-239_1061-235delinsAAAAG	XP_011526312.1:n.1061-239_1061-235delinsAAAAG
XR_001753685.2:n.1178-239_1178-235delinsAAAAG
XR_001753686.2:n.1178-239_1178-235delinsAAAAG
NM_000527.5:c.1061-239_1061-235delinsAAAAG MANE Select	NP_000518.1:n.1061-239_1061-235delinsAAAAG
NM_001195798.2:c.1061-239_1061-235delinsAAAAG	NP_001182727.1:n.1061-239_1061-235delinsAAAAG
NM_001195799.2:c.938-239_938-235delinsAAAAG	NP_001182728.1:n.938-239_938-235delinsAAAAG
NM_001195800.2:c.557-239_557-235delinsAAAAG	NP_001182729.1:n.557-239_557-235delinsAAAAG
NM_001195803.2:c.680-239_680-235delinsAAAAG	NP_001182732.1:n.680-239_680-235delinsAAAAG