Canonical Allele Identifier: CA2322773734

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116965_11116976delinsGCTGGCCCACCC , CM000681.2:g.11116965_11116976delinsGCTGGCCCACCC	GRCh38
NC_000019.9:g.11227641_11227652delinsGCTGGCCCACCC , CM000681.1:g.11227641_11227652delinsGCTGGCCCACCC	GRCh37
NC_000019.8:g.11088641_11088652delinsGCTGGCCCACCC	NCBI36
NG_009060.1:g.32585_32596delinsGCTGGCCCACCC , LRG_274:g.32585_32596delinsGCTGGCCCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2070_2081delinsGCTGGCCCACCC	ENSP00000252444.6:p.Arg690=
ENST00000559340.2:c.1705+753_1705+764delinsGCTGGCCCACCC	ENSP00000453696.2:n.1705+753_1705+764delinsGCTGGCCCACCC
ENST00000560467.2:c.1692_1703delinsGCTGGCCCACCC	ENSP00000453513.2:p.Arg564=
ENST00000558518.6:c.1812_1823delinsGCTGGCCCACCC MANE Select	ENSP00000454071.1:p.Arg604=
ENST00000252444.9:c.2066_2077delinsGCTGGCCCACCC
ENST00000455727.6:c.1308_1319delinsGCTGGCCCACCC	ENSP00000397829.2:p.Arg436=
ENST00000535915.5:c.1689_1700delinsGCTGGCCCACCC	ENSP00000440520.1:p.Arg563=
ENST00000545707.5:c.1431_1442delinsGCTGGCCCACCC	ENSP00000437639.1:p.Arg477=
ENST00000557933.5:c.1812_1823delinsGCTGGCCCACCC	ENSP00000453557.1:p.Arg604=
ENST00000558013.5:c.1812_1823delinsGCTGGCCCACCC	ENSP00000453346.1:p.Arg604=
ENST00000558518.5:c.1812_1823delinsGCTGGCCCACCC	ENSP00000454071.1:p.Arg604=
ENST00000559340.1:c.426+753_426+764delinsGCTGGCCCACCC
NM_000527.4:c.1812_1823delinsGCTGGCCCACCC , LRG_274t1:c.1812_1823delinsGCTGGCCCACCC	NP_000518.1:p.Arg604=
NM_001195798.1:c.1812_1823delinsGCTGGCCCACCC	NP_001182727.1:p.Arg604=
NM_001195799.1:c.1689_1700delinsGCTGGCCCACCC	NP_001182728.1:p.Arg563=
NM_001195800.1:c.1308_1319delinsGCTGGCCCACCC	NP_001182729.1:p.Arg436=
NM_001195803.1:c.1431_1442delinsGCTGGCCCACCC	NP_001182732.1:p.Arg477=
XM_011528010.1:c.1812_1823delinsGCTGGCCCACCC	XP_011526312.1:p.Arg604=
XM_011528011.1:c.1431_1442delinsGCTGGCCCACCC	XP_011526313.1:p.Arg477=
XR_244074.2:n.1855+753_1855+764delinsGCTGGCCCACCC
XM_011528010.2:c.1812_1823delinsGCTGGCCCACCC	XP_011526312.1:p.Arg604=
XR_001753685.2:n.1929_1940delinsGCTGGCCCACCC
XR_001753686.2:n.1822+753_1822+764delinsGCTGGCCCACCC
NM_000527.5:c.1812_1823delinsGCTGGCCCACCC MANE Select	NP_000518.1:p.Arg604=
NM_001195798.2:c.1812_1823delinsGCTGGCCCACCC	NP_001182727.1:p.Arg604=
NM_001195799.2:c.1689_1700delinsGCTGGCCCACCC	NP_001182728.1:p.Arg563=
NM_001195800.2:c.1308_1319delinsGCTGGCCCACCC	NP_001182729.1:p.Arg436=
NM_001195803.2:c.1431_1442delinsGCTGGCCCACCC	NP_001182732.1:p.Arg477=