Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11132722_11132723delinsCA , CM000681.2:g.11132722_11132723delinsCA	GRCh38
NC_000019.9:g.11243398_11243399delinsCA , CM000681.1:g.11243398_11243399delinsCA	GRCh37
NC_000019.8:g.11104398_11104399delinsCA	NCBI36
NG_009060.1:g.48342_48343delinsCA , LRG_274:g.48342_48343delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1406_1407delinsCA (LDLR)	ENSP00000252444.6:n.1406_1407delinsCA
ENST00000559340.2:c.2058_2059delinsCA (LDLR)	ENSP00000453696.2:n.2058_2059delinsCA
ENST00000560467.2:c.1406_1407delinsCA (LDLR)	ENSP00000453513.2:n.1406_1407delinsCA
ENST00000558518.6:c.1406_1407delinsCA (LDLR) MANE Select	ENSP00000454071.1:n.1406_1407delinsCA
ENST00000252444.9:c.4243_4244delinsCA (LDLR)
ENST00000560628.1:n.109-373_109-372delinsCA (LDLR)
ENST00000585567.5:c.540-1116_540-1115delinsTG (SPC24)	ENSP00000468818.1:n.540-1116_540-1115delinsTG
NM_000527.4:c.1406_1407delinsCA , LRG_274t1:c.1406_1407delinsCA (LDLR)	NP_000518.1:n.1406_1407delinsCA
NM_001195798.1:c.1406_1407delinsCA (LDLR)	NP_001182727.1:n.1406_1407delinsCA
NM_001195799.1:c.1406_1407delinsCA (LDLR)	NP_001182728.1:n.1406_1407delinsCA
NM_001195800.1:c.1406_1407delinsCA (LDLR)	NP_001182729.1:n.1406_1407delinsCA
NM_001195803.1:c.1406_1407delinsCA (LDLR)	NP_001182732.1:n.1406_1407delinsCA
XM_011528010.1:c.1406_1407delinsCA (LDLR)	XP_011526312.1:n.1406_1407delinsCA
XM_011528011.1:c.1406_1407delinsCA (LDLR)	XP_011526313.1:n.1406_1407delinsCA
XM_011528010.2:c.1406_1407delinsCA (LDLR)	XP_011526312.1:n.1406_1407delinsCA
XR_001753685.2:n.4323_4324delinsCA (LDLR)
XR_001753686.2:n.3966_3967delinsCA (LDLR)
NM_000527.5:c.1406_1407delinsCA (LDLR) MANE Select	NP_000518.1:n.1406_1407delinsCA
NM_001195798.2:c.1406_1407delinsCA (LDLR)	NP_001182727.1:n.1406_1407delinsCA
NM_001195799.2:c.1406_1407delinsCA (LDLR)	NP_001182728.1:n.1406_1407delinsCA
NM_001195800.2:c.1406_1407delinsCA (LDLR)	NP_001182729.1:n.1406_1407delinsCA
NM_001195803.2:c.1406_1407delinsCA (LDLR)	NP_001182732.1:n.1406_1407delinsCA

HGVS	Amino-acid Change
ENST00000252444.10:c.1406_1407delinsCA (LDLR)	ENSP00000252444.6:n.1406_1407delinsCA
ENST00000559340.2:c.2058_2059delinsCA (LDLR)	ENSP00000453696.2:n.2058_2059delinsCA
ENST00000560467.2:c.1406_1407delinsCA (LDLR)	ENSP00000453513.2:n.1406_1407delinsCA
ENST00000558518.6:c.1406_1407delinsCA (LDLR) MANE Select	ENSP00000454071.1:n.1406_1407delinsCA
ENST00000252444.9:c.4243_4244delinsCA (LDLR)
ENST00000560628.1:n.109-373_109-372delinsCA (LDLR)
ENST00000585567.5:c.540-1116_540-1115delinsTG (SPC24)	ENSP00000468818.1:n.540-1116_540-1115delinsTG
NM_000527.4:c.1406_1407delinsCA , LRG_274t1:c.1406_1407delinsCA (LDLR)	NP_000518.1:n.1406_1407delinsCA
NM_001195798.1:c.1406_1407delinsCA (LDLR)	NP_001182727.1:n.1406_1407delinsCA
NM_001195799.1:c.1406_1407delinsCA (LDLR)	NP_001182728.1:n.1406_1407delinsCA
NM_001195800.1:c.1406_1407delinsCA (LDLR)	NP_001182729.1:n.1406_1407delinsCA
NM_001195803.1:c.1406_1407delinsCA (LDLR)	NP_001182732.1:n.1406_1407delinsCA
XM_011528010.1:c.1406_1407delinsCA (LDLR)	XP_011526312.1:n.1406_1407delinsCA
XM_011528011.1:c.1406_1407delinsCA (LDLR)	XP_011526313.1:n.1406_1407delinsCA
XM_011528010.2:c.1406_1407delinsCA (LDLR)	XP_011526312.1:n.1406_1407delinsCA
XR_001753685.2:n.4323_4324delinsCA (LDLR)
XR_001753686.2:n.3966_3967delinsCA (LDLR)
NM_000527.5:c.1406_1407delinsCA (LDLR) MANE Select	NP_000518.1:n.1406_1407delinsCA
NM_001195798.2:c.1406_1407delinsCA (LDLR)	NP_001182727.1:n.1406_1407delinsCA
NM_001195799.2:c.1406_1407delinsCA (LDLR)	NP_001182728.1:n.1406_1407delinsCA
NM_001195800.2:c.1406_1407delinsCA (LDLR)	NP_001182729.1:n.1406_1407delinsCA
NM_001195803.2:c.1406_1407delinsCA (LDLR)	NP_001182732.1:n.1406_1407delinsCA