Canonical Allele Identifier: CA2322779555

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128070_11128071delinsAT , CM000681.2:g.11128070_11128071delinsAT	GRCh38
NC_000019.9:g.11238746_11238747delinsAT , CM000681.1:g.11238746_11238747delinsAT	GRCh37
NC_000019.8:g.11099746_11099747delinsAT	NCBI36
NG_009060.1:g.43690_43691delinsAT , LRG_274:g.43690_43691delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2632_2633delinsAT	ENSP00000252444.6:p.Ile878=
ENST00000559340.2:c.*443_*444delinsAT	ENSP00000453696.2:n.*443_*444delinsAT
ENST00000560467.2:c.2254_2255delinsAT	ENSP00000453513.2:p.Ile752=
ENST00000558518.6:c.2374_2375delinsAT MANE Select	ENSP00000454071.1:p.Ile792=
ENST00000252444.9:c.2628_2629delinsAT
ENST00000455727.6:c.1870_1871delinsAT	ENSP00000397829.2:p.Ile624=
ENST00000535915.5:c.2251_2252delinsAT	ENSP00000440520.1:p.Ile751=
ENST00000545707.5:c.1840_1841delinsAT	ENSP00000437639.1:p.Ile614=
ENST00000557933.5:c.2374_2375delinsAT	ENSP00000453557.1:p.Ile792=
ENST00000558013.5:c.2374_2375delinsAT	ENSP00000453346.1:p.Ile792=
ENST00000558518.5:c.2374_2375delinsAT	ENSP00000454071.1:p.Ile792=
ENST00000560628.1:n.108+416_108+417delinsAT
NM_000527.4:c.2374_2375delinsAT , LRG_274t1:c.2374_2375delinsAT	NP_000518.1:p.Ile792=
NM_001195798.1:c.2374_2375delinsAT	NP_001182727.1:p.Ile792=
NM_001195799.1:c.2251_2252delinsAT	NP_001182728.1:p.Ile751=
NM_001195800.1:c.1870_1871delinsAT	NP_001182729.1:p.Ile624=
NM_001195803.1:c.1840_1841delinsAT	NP_001182732.1:p.Ile614=
XM_011528010.1:c.2312-1443_2312-1442delinsAT	XP_011526312.1:n.2312-1443_2312-1442delin...
XM_011528011.1:c.1993_1994delinsAT	XP_011526313.1:p.Ile665=
XR_244074.2:n.2384_2385delinsAT
XM_011528010.2:c.2312-1443_2312-1442delinsAT	XP_011526312.1:n.2312-1443_2312-1442delin...
XR_001753685.2:n.2708_2709delinsAT
XR_001753686.2:n.2351_2352delinsAT
NM_000527.5:c.2374_2375delinsAT MANE Select	NP_000518.1:p.Ile792=
NM_001195798.2:c.2374_2375delinsAT	NP_001182727.1:p.Ile792=
NM_001195799.2:c.2251_2252delinsAT	NP_001182728.1:p.Ile751=
NM_001195800.2:c.1870_1871delinsAT	NP_001182729.1:p.Ile624=
NM_001195803.2:c.1840_1841delinsAT	NP_001182732.1:p.Ile614=