Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11132532_11132533delinsAC , CM000681.2:g.11132532_11132533delinsAC	GRCh38
NC_000019.9:g.11243208_11243209delinsAC , CM000681.1:g.11243208_11243209delinsAC	GRCh37
NC_000019.8:g.11104208_11104209delinsAC	NCBI36
NG_009060.1:g.48152_48153delinsAC , LRG_274:g.48152_48153delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1216_1217delinsAC (LDLR)	ENSP00000252444.6:n.1216_1217delinsAC
ENST00000559340.2:c.1868_1869delinsAC (LDLR)	ENSP00000453696.2:n.1868_1869delinsAC
ENST00000560467.2:c.1216_1217delinsAC (LDLR)	ENSP00000453513.2:n.1216_1217delinsAC
ENST00000558518.6:c.1216_1217delinsAC (LDLR) MANE Select	ENSP00000454071.1:n.1216_1217delinsAC
ENST00000252444.9:c.4053_4054delinsAC (LDLR)
ENST00000560628.1:n.109-563_109-562delinsAC (LDLR)
ENST00000585567.5:c.540-926_540-925delinsGT (SPC24)	ENSP00000468818.1:n.540-926_540-925delinsGT
NM_000527.4:c.1216_1217delinsAC , LRG_274t1:c.1216_1217delinsAC (LDLR)	NP_000518.1:n.1216_1217delinsAC
NM_001195798.1:c.1216_1217delinsAC (LDLR)	NP_001182727.1:n.1216_1217delinsAC
NM_001195799.1:c.1216_1217delinsAC (LDLR)	NP_001182728.1:n.1216_1217delinsAC
NM_001195800.1:c.1216_1217delinsAC (LDLR)	NP_001182729.1:n.1216_1217delinsAC
NM_001195803.1:c.1216_1217delinsAC (LDLR)	NP_001182732.1:n.1216_1217delinsAC
XM_011528010.1:c.1216_1217delinsAC (LDLR)	XP_011526312.1:n.1216_1217delinsAC
XM_011528011.1:c.1216_1217delinsAC (LDLR)	XP_011526313.1:n.1216_1217delinsAC
XM_011528010.2:c.1216_1217delinsAC (LDLR)	XP_011526312.1:n.1216_1217delinsAC
XR_001753685.2:n.4133_4134delinsAC (LDLR)
XR_001753686.2:n.3776_3777delinsAC (LDLR)
NM_000527.5:c.1216_1217delinsAC (LDLR) MANE Select	NP_000518.1:n.1216_1217delinsAC
NM_001195798.2:c.1216_1217delinsAC (LDLR)	NP_001182727.1:n.1216_1217delinsAC
NM_001195799.2:c.1216_1217delinsAC (LDLR)	NP_001182728.1:n.1216_1217delinsAC
NM_001195800.2:c.1216_1217delinsAC (LDLR)	NP_001182729.1:n.1216_1217delinsAC
NM_001195803.2:c.1216_1217delinsAC (LDLR)	NP_001182732.1:n.1216_1217delinsAC

HGVS	Amino-acid Change
ENST00000252444.10:c.1216_1217delinsAC (LDLR)	ENSP00000252444.6:n.1216_1217delinsAC
ENST00000559340.2:c.1868_1869delinsAC (LDLR)	ENSP00000453696.2:n.1868_1869delinsAC
ENST00000560467.2:c.1216_1217delinsAC (LDLR)	ENSP00000453513.2:n.1216_1217delinsAC
ENST00000558518.6:c.1216_1217delinsAC (LDLR) MANE Select	ENSP00000454071.1:n.1216_1217delinsAC
ENST00000252444.9:c.4053_4054delinsAC (LDLR)
ENST00000560628.1:n.109-563_109-562delinsAC (LDLR)
ENST00000585567.5:c.540-926_540-925delinsGT (SPC24)	ENSP00000468818.1:n.540-926_540-925delinsGT
NM_000527.4:c.1216_1217delinsAC , LRG_274t1:c.1216_1217delinsAC (LDLR)	NP_000518.1:n.1216_1217delinsAC
NM_001195798.1:c.1216_1217delinsAC (LDLR)	NP_001182727.1:n.1216_1217delinsAC
NM_001195799.1:c.1216_1217delinsAC (LDLR)	NP_001182728.1:n.1216_1217delinsAC
NM_001195800.1:c.1216_1217delinsAC (LDLR)	NP_001182729.1:n.1216_1217delinsAC
NM_001195803.1:c.1216_1217delinsAC (LDLR)	NP_001182732.1:n.1216_1217delinsAC
XM_011528010.1:c.1216_1217delinsAC (LDLR)	XP_011526312.1:n.1216_1217delinsAC
XM_011528011.1:c.1216_1217delinsAC (LDLR)	XP_011526313.1:n.1216_1217delinsAC
XM_011528010.2:c.1216_1217delinsAC (LDLR)	XP_011526312.1:n.1216_1217delinsAC
XR_001753685.2:n.4133_4134delinsAC (LDLR)
XR_001753686.2:n.3776_3777delinsAC (LDLR)
NM_000527.5:c.1216_1217delinsAC (LDLR) MANE Select	NP_000518.1:n.1216_1217delinsAC
NM_001195798.2:c.1216_1217delinsAC (LDLR)	NP_001182727.1:n.1216_1217delinsAC
NM_001195799.2:c.1216_1217delinsAC (LDLR)	NP_001182728.1:n.1216_1217delinsAC
NM_001195800.2:c.1216_1217delinsAC (LDLR)	NP_001182729.1:n.1216_1217delinsAC
NM_001195803.2:c.1216_1217delinsAC (LDLR)	NP_001182732.1:n.1216_1217delinsAC