Canonical Allele Identifier: CA2322768613

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107461_11107463delinsGCA , CM000681.2:g.11107461_11107463delinsGCA	GRCh38
NC_000019.9:g.11218137_11218139delinsGCA , CM000681.1:g.11218137_11218139delinsGCA	GRCh37
NC_000019.8:g.11079137_11079139delinsGCA	NCBI36
NG_009060.1:g.23081_23083delinsGCA , LRG_274:g.23081_23083delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1145_1147delinsGCA	ENSP00000252444.6:p.Cys382=
ENST00000559340.2:c.887_889delinsGCA	ENSP00000453696.2:p.Cys296=
ENST00000560467.2:c.887_889delinsGCA	ENSP00000453513.2:p.Cys296=
ENST00000558518.6:c.887_889delinsGCA MANE Select	ENSP00000454071.1:p.Cys296=
ENST00000252444.9:c.1141_1143delinsGCA
ENST00000455727.6:c.383_385delinsGCA	ENSP00000397829.2:p.Cys128=
ENST00000535915.5:c.764_766delinsGCA	ENSP00000440520.1:p.Cys255=
ENST00000545707.5:c.506_508delinsGCA	ENSP00000437639.1:p.Cys169=
ENST00000557933.5:c.887_889delinsGCA	ENSP00000453557.1:p.Cys296=
ENST00000558013.5:c.887_889delinsGCA	ENSP00000453346.1:p.Cys296=
ENST00000558518.5:c.887_889delinsGCA	ENSP00000454071.1:p.Cys296=
ENST00000558528.1:n.402_404delinsGCA
ENST00000560467.1:c.487_489delinsGCA
NM_000527.4:c.887_889delinsGCA , LRG_274t1:c.887_889delinsGCA	NP_000518.1:p.Cys296=
NM_001195798.1:c.887_889delinsGCA	NP_001182727.1:p.Cys296=
NM_001195799.1:c.764_766delinsGCA	NP_001182728.1:p.Cys255=
NM_001195800.1:c.383_385delinsGCA	NP_001182729.1:p.Cys128=
NM_001195803.1:c.506_508delinsGCA	NP_001182732.1:p.Cys169=
XM_011528010.1:c.887_889delinsGCA	XP_011526312.1:p.Cys296=
XM_011528011.1:c.506_508delinsGCA	XP_011526313.1:p.Cys169=
XR_244074.2:n.1037_1039delinsGCA
XM_011528010.2:c.887_889delinsGCA	XP_011526312.1:p.Cys296=
XR_001753685.2:n.1004_1006delinsGCA
XR_001753686.2:n.1004_1006delinsGCA
NM_000527.5:c.887_889delinsGCA MANE Select	NP_000518.1:p.Cys296=
NM_001195798.2:c.887_889delinsGCA	NP_001182727.1:p.Cys296=
NM_001195799.2:c.764_766delinsGCA	NP_001182728.1:p.Cys255=
NM_001195800.2:c.383_385delinsGCA	NP_001182729.1:p.Cys128=
NM_001195803.2:c.506_508delinsGCA	NP_001182732.1:p.Cys169=