Canonical Allele Identifier: CA2573050586

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106626_11106632del , CM000681.2:g.11106626_11106632del	GRCh38
NC_000019.9:g.11217302_11217308del , CM000681.1:g.11217302_11217308del	GRCh37
NC_000019.8:g.11078302_11078308del	NCBI36
NG_009060.1:g.22246_22252del , LRG_274:g.22246_22252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1014_1020del	ENSP00000252444.6:p.Arg339ValfsTer10
ENST00000559340.2:c.756_762del	ENSP00000453696.2:p.Arg253ValfsTer10
ENST00000560467.2:c.756_762del	ENSP00000453513.2:p.Arg253ValfsTer10
ENST00000558518.6:c.756_762del MANE Select	ENSP00000454071.1:p.Arg253ValfsTer10
ENST00000252444.9:c.1010_1016del
ENST00000455727.6:c.314-766_314-760del	ENSP00000397829.2:n.314-766_314-760del
ENST00000535915.5:c.633_639del	ENSP00000440520.1:p.Arg212ValfsTer10
ENST00000545707.5:c.375_381del	ENSP00000437639.1:p.Arg126ValfsTer10
ENST00000557933.5:c.756_762del	ENSP00000453557.1:p.Arg253ValfsTer10
ENST00000558013.5:c.756_762del	ENSP00000453346.1:p.Arg253ValfsTer10
ENST00000558518.5:c.756_762del	ENSP00000454071.1:p.Arg253ValfsTer10
ENST00000558528.1:n.271_277del
ENST00000560467.1:c.356_362del
NM_000527.4:c.756_762del , LRG_274t1:c.756_762del	NP_000518.1:p.Arg253ValfsTer10
NM_001195798.1:c.756_762del	NP_001182727.1:p.Arg253ValfsTer10
NM_001195799.1:c.633_639del	NP_001182728.1:p.Arg212ValfsTer10
NM_001195800.1:c.314-766_314-760del	NP_001182729.1:n.314-766_314-760del
NM_001195803.1:c.375_381del	NP_001182732.1:p.Arg126ValfsTer10
XM_011528010.1:c.756_762del	XP_011526312.1:p.Arg253ValfsTer10
XM_011528011.1:c.375_381del	XP_011526313.1:p.Arg126ValfsTer10
XR_244074.2:n.906_912del
XM_011528010.2:c.756_762del	XP_011526312.1:p.Arg253ValfsTer10
XR_001753685.2:n.873_879del
XR_001753686.2:n.873_879del
NM_000527.5:c.756_762del MANE Select	NP_000518.1:p.Arg253ValfsTer10
NM_001195798.2:c.756_762del	NP_001182727.1:p.Arg253ValfsTer10
NM_001195799.2:c.633_639del	NP_001182728.1:p.Arg212ValfsTer10
NM_001195800.2:c.314-766_314-760del	NP_001182729.1:n.314-766_314-760del
NM_001195803.2:c.375_381del	NP_001182732.1:p.Arg126ValfsTer10