Canonical Allele Identifier: CA2322773749

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116982_11116991delinsCCTTGGCCGT , CM000681.2:g.11116982_11116991delinsCCTTGGCCGT	GRCh38
NC_000019.9:g.11227658_11227667delinsCCTTGGCCGT , CM000681.1:g.11227658_11227667delinsCCTTGGCCGT	GRCh37
NC_000019.8:g.11088658_11088667delinsCCTTGGCCGT	NCBI36
NG_009060.1:g.32602_32611delinsCCTTGGCCGT , LRG_274:g.32602_32611delinsCCTTGGCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2087_2096delinsCCTTGGCCGT	ENSP00000252444.6:p.Ser696=
ENST00000559340.2:c.1705+770_1705+779delinsCCTTGGCCGT	ENSP00000453696.2:n.1705+770_1705+779delinsCCTTGGCCGT
ENST00000560467.2:c.1709_1718delinsCCTTGGCCGT	ENSP00000453513.2:p.Ser570=
ENST00000558518.6:c.1829_1838delinsCCTTGGCCGT MANE Select	ENSP00000454071.1:p.Ser610=
ENST00000252444.9:c.2083_2092delinsCCTTGGCCGT
ENST00000455727.6:c.1325_1334delinsCCTTGGCCGT	ENSP00000397829.2:p.Ser442=
ENST00000535915.5:c.1706_1715delinsCCTTGGCCGT	ENSP00000440520.1:p.Ser569=
ENST00000545707.5:c.1448_1457delinsCCTTGGCCGT	ENSP00000437639.1:p.Ser483=
ENST00000557933.5:c.1829_1838delinsCCTTGGCCGT	ENSP00000453557.1:p.Ser610=
ENST00000558013.5:c.1829_1838delinsCCTTGGCCGT	ENSP00000453346.1:p.Ser610=
ENST00000558518.5:c.1829_1838delinsCCTTGGCCGT	ENSP00000454071.1:p.Ser610=
ENST00000559340.1:c.426+770_426+779delinsCCTTGGCCGT
NM_000527.4:c.1829_1838delinsCCTTGGCCGT , LRG_274t1:c.1829_1838delinsCCTTGGCCGT	NP_000518.1:p.Ser610=
NM_001195798.1:c.1829_1838delinsCCTTGGCCGT	NP_001182727.1:p.Ser610=
NM_001195799.1:c.1706_1715delinsCCTTGGCCGT	NP_001182728.1:p.Ser569=
NM_001195800.1:c.1325_1334delinsCCTTGGCCGT	NP_001182729.1:p.Ser442=
NM_001195803.1:c.1448_1457delinsCCTTGGCCGT	NP_001182732.1:p.Ser483=
XM_011528010.1:c.1829_1838delinsCCTTGGCCGT	XP_011526312.1:p.Ser610=
XM_011528011.1:c.1448_1457delinsCCTTGGCCGT	XP_011526313.1:p.Ser483=
XR_244074.2:n.1855+770_1855+779delinsCCTTGGCCGT
XM_011528010.2:c.1829_1838delinsCCTTGGCCGT	XP_011526312.1:p.Ser610=
XR_001753685.2:n.1946_1955delinsCCTTGGCCGT
XR_001753686.2:n.1822+770_1822+779delinsCCTTGGCCGT
NM_000527.5:c.1829_1838delinsCCTTGGCCGT MANE Select	NP_000518.1:p.Ser610=
NM_001195798.2:c.1829_1838delinsCCTTGGCCGT	NP_001182727.1:p.Ser610=
NM_001195799.2:c.1706_1715delinsCCTTGGCCGT	NP_001182728.1:p.Ser569=
NM_001195800.2:c.1325_1334delinsCCTTGGCCGT	NP_001182729.1:p.Ser442=
NM_001195803.2:c.1448_1457delinsCCTTGGCCGT	NP_001182732.1:p.Ser483=