Canonical Allele Identifier: CA2813590076

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106483_11106484insCG , CM000681.2:g.11106483_11106484insCG	GRCh38
NC_000019.9:g.11217159_11217160insCG , CM000681.1:g.11217159_11217160insCG	GRCh37
NC_000019.8:g.11078159_11078160insCG	NCBI36
NG_009060.1:g.22103_22104insCG , LRG_274:g.22103_22104insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-82_953-81insCG	ENSP00000252444.6:n.953-82_953-81insCG
ENST00000559340.2:c.695-82_695-81insCG	ENSP00000453696.2:n.695-82_695-81insCG
ENST00000560467.2:c.695-82_695-81insCG	ENSP00000453513.2:n.695-82_695-81insCG
ENST00000558518.6:c.695-82_695-81insCG MANE Select	ENSP00000454071.1:n.695-82_695-81insCG
ENST00000252444.9:c.949-82_949-81insCG
ENST00000455727.6:c.314-909_314-908insCG	ENSP00000397829.2:n.314-909_314-908insCG
ENST00000535915.5:c.572-82_572-81insCG	ENSP00000440520.1:n.572-82_572-81insCG
ENST00000545707.5:c.314-82_314-81insCG	ENSP00000437639.1:n.314-82_314-81insCG
ENST00000557933.5:c.695-82_695-81insCG	ENSP00000453557.1:n.695-82_695-81insCG
ENST00000558013.5:c.695-82_695-81insCG	ENSP00000453346.1:n.695-82_695-81insCG
ENST00000558518.5:c.695-82_695-81insCG	ENSP00000454071.1:n.695-82_695-81insCG
ENST00000558528.1:n.128_129insCG
ENST00000560467.1:c.295-82_295-81insCG
NM_000527.4:c.695-82_695-81insCG , LRG_274t1:c.695-82_695-81insCG	NP_000518.1:n.695-82_695-81insCG
NM_001195798.1:c.695-82_695-81insCG	NP_001182727.1:n.695-82_695-81insCG
NM_001195799.1:c.572-82_572-81insCG	NP_001182728.1:n.572-82_572-81insCG
NM_001195800.1:c.314-909_314-908insCG	NP_001182729.1:n.314-909_314-908insCG
NM_001195803.1:c.314-82_314-81insCG	NP_001182732.1:n.314-82_314-81insCG
XM_011528010.1:c.695-82_695-81insCG	XP_011526312.1:n.695-82_695-81insCG
XM_011528011.1:c.314-82_314-81insCG	XP_011526313.1:n.314-82_314-81insCG
XR_244074.2:n.845-82_845-81insCG
XM_011528010.2:c.695-82_695-81insCG	XP_011526312.1:n.695-82_695-81insCG
XR_001753685.2:n.812-82_812-81insCG
XR_001753686.2:n.812-82_812-81insCG
NM_000527.5:c.695-82_695-81insCG MANE Select	NP_000518.1:n.695-82_695-81insCG
NM_001195798.2:c.695-82_695-81insCG	NP_001182727.1:n.695-82_695-81insCG
NM_001195799.2:c.572-82_572-81insCG	NP_001182728.1:n.572-82_572-81insCG
NM_001195800.2:c.314-909_314-908insCG	NP_001182729.1:n.314-909_314-908insCG
NM_001195803.2:c.314-82_314-81insCG	NP_001182732.1:n.314-82_314-81insCG