Canonical Allele Identifier: CA2322764693

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100234_11100236delinsTGC , CM000681.2:g.11100234_11100236delinsTGC	GRCh38
NC_000019.9:g.11210910_11210912delinsTGC , CM000681.1:g.11210910_11210912delinsTGC	GRCh37
NC_000019.8:g.11071910_11071912delinsTGC	NCBI36
NG_009060.1:g.15854_15856delinsTGC , LRG_274:g.15854_15856delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.337_339delinsTGC	ENSP00000252444.6:p.Cys113=
ENST00000559340.2:c.79_81delinsTGC	ENSP00000453696.2:p.Cys27=
ENST00000560467.2:c.79_81delinsTGC	ENSP00000453513.2:p.Cys27=
ENST00000558518.6:c.79_81delinsTGC MANE Select	ENSP00000454071.1:p.Cys27=
ENST00000252444.9:c.333_335delinsTGC
ENST00000455727.6:c.79_81delinsTGC	ENSP00000397829.2:p.Cys27=
ENST00000535915.5:c.79_81delinsTGC	ENSP00000440520.1:p.Cys27=
ENST00000545707.5:c.79_81delinsTGC	ENSP00000437639.1:p.Cys27=
ENST00000557933.5:c.79_81delinsTGC	ENSP00000453557.1:p.Cys27=
ENST00000557958.1:n.165_167delinsTGC
ENST00000558013.5:c.79_81delinsTGC	ENSP00000453346.1:p.Cys27=
ENST00000558518.5:c.79_81delinsTGC	ENSP00000454071.1:p.Cys27=
ENST00000560502.5:n.165_167delinsTGC
NM_000527.4:c.79_81delinsTGC , LRG_274t1:c.79_81delinsTGC	NP_000518.1:p.Cys27=
NM_001195798.1:c.79_81delinsTGC	NP_001182727.1:p.Cys27=
NM_001195799.1:c.79_81delinsTGC	NP_001182728.1:p.Cys27=
NM_001195800.1:c.79_81delinsTGC	NP_001182729.1:p.Cys27=
NM_001195803.1:c.79_81delinsTGC	NP_001182732.1:p.Cys27=
XM_011528010.1:c.79_81delinsTGC	XP_011526312.1:p.Cys27=
XM_011528011.1:c.79_81delinsTGC	XP_011526313.1:p.Cys27=
XR_244074.2:n.229_231delinsTGC
XM_011528010.2:c.79_81delinsTGC	XP_011526312.1:p.Cys27=
XR_001753685.2:n.196_198delinsTGC
XR_001753686.2:n.196_198delinsTGC
NM_000527.5:c.79_81delinsTGC MANE Select	NP_000518.1:p.Cys27=
NM_001195798.2:c.79_81delinsTGC	NP_001182727.1:p.Cys27=
NM_001195799.2:c.79_81delinsTGC	NP_001182728.1:p.Cys27=
NM_001195800.2:c.79_81delinsTGC	NP_001182729.1:p.Cys27=
NM_001195803.2:c.79_81delinsTGC	NP_001182732.1:p.Cys27=