Canonical Allele Identifier: CA2497030123

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105477_11105483delinsGCCCAAT , CM000681.2:g.11105477_11105483delinsGCCCAAT	GRCh38
NC_000019.9:g.11216153_11216159delinsGCCCAAT , CM000681.1:g.11216153_11216159delinsGCCCAAT	GRCh37
NC_000019.8:g.11077153_11077159delinsGCCCAAT	NCBI36
NG_009060.1:g.21097_21103delinsGCCCAAT , LRG_274:g.21097_21103delinsGCCCAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.829_835delinsGCCCAAT	ENSP00000252444.6:p.Gln277_Asp279delinsAl...
ENST00000559340.2:c.571_577delinsGCCCAAT	ENSP00000453696.2:p.Gln191_Asp193delinsAl...
ENST00000560467.2:c.571_577delinsGCCCAAT	ENSP00000453513.2:p.Gln191_Asp193delinsAl...
ENST00000558518.6:c.571_577delinsGCCCAAT MANE Select	ENSP00000454071.1:p.Gln191_Asp193delinsAl...
ENST00000252444.9:c.825_831delinsGCCCAAT
ENST00000455727.6:c.314-1915_314-1909delinsGCCCAAT	ENSP00000397829.2:n.314-1915_314-1909deli...
ENST00000535915.5:c.448_454delinsGCCCAAT	ENSP00000440520.1:p.Gln150_Asp152delinsAl...
ENST00000545707.5:c.314-1088_314-1082delinsGCCCAAT	ENSP00000437639.1:n.314-1088_314-1082deli...
ENST00000557933.5:c.571_577delinsGCCCAAT	ENSP00000453557.1:p.Gln191_Asp193delinsAl...
ENST00000558013.5:c.571_577delinsGCCCAAT	ENSP00000453346.1:p.Gln191_Asp193delinsAl...
ENST00000558518.5:c.571_577delinsGCCCAAT	ENSP00000454071.1:p.Gln191_Asp193delinsAl...
ENST00000560467.1:c.171_177delinsGCCCAAT
NM_000527.4:c.571_577delinsGCCCAAT , LRG_274t1:c.571_577delinsGCCCAAT	NP_000518.1:p.Gln191_Asp193delinsAlaGlnTy...
NM_001195798.1:c.571_577delinsGCCCAAT	NP_001182727.1:p.Gln191_Asp193delinsAlaGl...
NM_001195799.1:c.448_454delinsGCCCAAT	NP_001182728.1:p.Gln150_Asp152delinsAlaGl...
NM_001195800.1:c.314-1915_314-1909delinsGCCCAAT	NP_001182729.1:n.314-1915_314-1909delinsG...
NM_001195803.1:c.314-1088_314-1082delinsGCCCAAT	NP_001182732.1:n.314-1088_314-1082delinsG...
XM_011528010.1:c.571_577delinsGCCCAAT	XP_011526312.1:p.Gln191_Asp193delinsAlaGl...
XM_011528011.1:c.314-1088_314-1082delinsGCCCAAT	XP_011526313.1:n.314-1088_314-1082delinsG...
XR_244074.2:n.721_727delinsGCCCAAT
XM_011528010.2:c.571_577delinsGCCCAAT	XP_011526312.1:p.Gln191_Asp193delinsAlaGl...
XR_001753685.2:n.688_694delinsGCCCAAT
XR_001753686.2:n.688_694delinsGCCCAAT
NM_000527.5:c.571_577delinsGCCCAAT MANE Select	NP_000518.1:p.Gln191_Asp193delinsAlaGlnTy...
NM_001195798.2:c.571_577delinsGCCCAAT	NP_001182727.1:p.Gln191_Asp193delinsAlaGl...
NM_001195799.2:c.448_454delinsGCCCAAT	NP_001182728.1:p.Gln150_Asp152delinsAlaGl...
NM_001195800.2:c.314-1915_314-1909delinsGCCCAAT	NP_001182729.1:n.314-1915_314-1909delinsG...
NM_001195803.2:c.314-1088_314-1082delinsGCCCAAT	NP_001182732.1:n.314-1088_314-1082delinsG...