Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11132621_11132624delinsCAGG , CM000681.2:g.11132621_11132624delinsCAGG	GRCh38
NC_000019.9:g.11243297_11243300delinsCAGG , CM000681.1:g.11243297_11243300delinsCAGG	GRCh37
NC_000019.8:g.11104297_11104300delinsCAGG	NCBI36
NG_009060.1:g.48241_48244delinsCAGG , LRG_274:g.48241_48244delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1305_1308delinsCAGG (LDLR)	ENSP00000252444.6:n.1305_1308delinsCAGG
ENST00000559340.2:c.1957_1960delinsCAGG (LDLR)	ENSP00000453696.2:n.1957_1960delinsCAGG
ENST00000560467.2:c.1305_1308delinsCAGG (LDLR)	ENSP00000453513.2:n.1305_1308delinsCAGG
ENST00000558518.6:c.1305_1308delinsCAGG (LDLR) MANE Select	ENSP00000454071.1:n.1305_1308delinsCAGG
ENST00000252444.9:c.4142_4145delinsCAGG (LDLR)
ENST00000560628.1:n.109-474_109-471delinsCAGG (LDLR)
ENST00000585567.5:c.540-1017_540-1014delinsCCTG (SPC24)	ENSP00000468818.1:n.540-1017_540-1014delinsCCTG
NM_000527.4:c.1305_1308delinsCAGG , LRG_274t1:c.1305_1308delinsCAGG (LDLR)	NP_000518.1:n.1305_1308delinsCAGG
NM_001195798.1:c.1305_1308delinsCAGG (LDLR)	NP_001182727.1:n.1305_1308delinsCAGG
NM_001195799.1:c.1305_1308delinsCAGG (LDLR)	NP_001182728.1:n.1305_1308delinsCAGG
NM_001195800.1:c.1305_1308delinsCAGG (LDLR)	NP_001182729.1:n.1305_1308delinsCAGG
NM_001195803.1:c.1305_1308delinsCAGG (LDLR)	NP_001182732.1:n.1305_1308delinsCAGG
XM_011528010.1:c.1305_1308delinsCAGG (LDLR)	XP_011526312.1:n.1305_1308delinsCAGG
XM_011528011.1:c.1305_1308delinsCAGG (LDLR)	XP_011526313.1:n.1305_1308delinsCAGG
XM_011528010.2:c.1305_1308delinsCAGG (LDLR)	XP_011526312.1:n.1305_1308delinsCAGG
XR_001753685.2:n.4222_4225delinsCAGG (LDLR)
XR_001753686.2:n.3865_3868delinsCAGG (LDLR)
NM_000527.5:c.1305_1308delinsCAGG (LDLR) MANE Select	NP_000518.1:n.1305_1308delinsCAGG
NM_001195798.2:c.1305_1308delinsCAGG (LDLR)	NP_001182727.1:n.1305_1308delinsCAGG
NM_001195799.2:c.1305_1308delinsCAGG (LDLR)	NP_001182728.1:n.1305_1308delinsCAGG
NM_001195800.2:c.1305_1308delinsCAGG (LDLR)	NP_001182729.1:n.1305_1308delinsCAGG
NM_001195803.2:c.1305_1308delinsCAGG (LDLR)	NP_001182732.1:n.1305_1308delinsCAGG

HGVS	Amino-acid Change
ENST00000252444.10:c.1305_1308delinsCAGG (LDLR)	ENSP00000252444.6:n.1305_1308delinsCAGG
ENST00000559340.2:c.1957_1960delinsCAGG (LDLR)	ENSP00000453696.2:n.1957_1960delinsCAGG
ENST00000560467.2:c.1305_1308delinsCAGG (LDLR)	ENSP00000453513.2:n.1305_1308delinsCAGG
ENST00000558518.6:c.1305_1308delinsCAGG (LDLR) MANE Select	ENSP00000454071.1:n.1305_1308delinsCAGG
ENST00000252444.9:c.4142_4145delinsCAGG (LDLR)
ENST00000560628.1:n.109-474_109-471delinsCAGG (LDLR)
ENST00000585567.5:c.540-1017_540-1014delinsCCTG (SPC24)	ENSP00000468818.1:n.540-1017_540-1014delinsCCTG
NM_000527.4:c.1305_1308delinsCAGG , LRG_274t1:c.1305_1308delinsCAGG (LDLR)	NP_000518.1:n.1305_1308delinsCAGG
NM_001195798.1:c.1305_1308delinsCAGG (LDLR)	NP_001182727.1:n.1305_1308delinsCAGG
NM_001195799.1:c.1305_1308delinsCAGG (LDLR)	NP_001182728.1:n.1305_1308delinsCAGG
NM_001195800.1:c.1305_1308delinsCAGG (LDLR)	NP_001182729.1:n.1305_1308delinsCAGG
NM_001195803.1:c.1305_1308delinsCAGG (LDLR)	NP_001182732.1:n.1305_1308delinsCAGG
XM_011528010.1:c.1305_1308delinsCAGG (LDLR)	XP_011526312.1:n.1305_1308delinsCAGG
XM_011528011.1:c.1305_1308delinsCAGG (LDLR)	XP_011526313.1:n.1305_1308delinsCAGG
XM_011528010.2:c.1305_1308delinsCAGG (LDLR)	XP_011526312.1:n.1305_1308delinsCAGG
XR_001753685.2:n.4222_4225delinsCAGG (LDLR)
XR_001753686.2:n.3865_3868delinsCAGG (LDLR)
NM_000527.5:c.1305_1308delinsCAGG (LDLR) MANE Select	NP_000518.1:n.1305_1308delinsCAGG
NM_001195798.2:c.1305_1308delinsCAGG (LDLR)	NP_001182727.1:n.1305_1308delinsCAGG
NM_001195799.2:c.1305_1308delinsCAGG (LDLR)	NP_001182728.1:n.1305_1308delinsCAGG
NM_001195800.2:c.1305_1308delinsCAGG (LDLR)	NP_001182729.1:n.1305_1308delinsCAGG
NM_001195803.2:c.1305_1308delinsCAGG (LDLR)	NP_001182732.1:n.1305_1308delinsCAGG