Canonical Allele Identifier: CA2322773665

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116889_11116890delinsAC , CM000681.2:g.11116889_11116890delinsAC	GRCh38
NC_000019.9:g.11227565_11227566delinsAC , CM000681.1:g.11227565_11227566delinsAC	GRCh37
NC_000019.8:g.11088565_11088566delinsAC	NCBI36
NG_009060.1:g.32509_32510delinsAC , LRG_274:g.32509_32510delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1994_1995delinsAC	ENSP00000252444.6:p.Asp665=
ENST00000559340.2:c.1705+677_1705+678delinsAC	ENSP00000453696.2:n.1705+677_1705+678delinsAC
ENST00000560467.2:c.1616_1617delinsAC	ENSP00000453513.2:p.Asp539=
ENST00000558518.6:c.1736_1737delinsAC MANE Select	ENSP00000454071.1:p.Asp579=
ENST00000252444.9:c.1990_1991delinsAC
ENST00000455727.6:c.1232_1233delinsAC	ENSP00000397829.2:p.Asp411=
ENST00000535915.5:c.1613_1614delinsAC	ENSP00000440520.1:p.Asp538=
ENST00000545707.5:c.1355_1356delinsAC	ENSP00000437639.1:p.Asp452=
ENST00000557933.5:c.1736_1737delinsAC	ENSP00000453557.1:p.Asp579=
ENST00000558013.5:c.1736_1737delinsAC	ENSP00000453346.1:p.Asp579=
ENST00000558518.5:c.1736_1737delinsAC	ENSP00000454071.1:p.Asp579=
ENST00000559340.1:c.426+677_426+678delinsAC
NM_000527.4:c.1736_1737delinsAC , LRG_274t1:c.1736_1737delinsAC	NP_000518.1:p.Asp579=
NM_001195798.1:c.1736_1737delinsAC	NP_001182727.1:p.Asp579=
NM_001195799.1:c.1613_1614delinsAC	NP_001182728.1:p.Asp538=
NM_001195800.1:c.1232_1233delinsAC	NP_001182729.1:p.Asp411=
NM_001195803.1:c.1355_1356delinsAC	NP_001182732.1:p.Asp452=
XM_011528010.1:c.1736_1737delinsAC	XP_011526312.1:p.Asp579=
XM_011528011.1:c.1355_1356delinsAC	XP_011526313.1:p.Asp452=
XR_244074.2:n.1855+677_1855+678delinsAC
XM_011528010.2:c.1736_1737delinsAC	XP_011526312.1:p.Asp579=
XR_001753685.2:n.1853_1854delinsAC
XR_001753686.2:n.1822+677_1822+678delinsAC
NM_000527.5:c.1736_1737delinsAC MANE Select	NP_000518.1:p.Asp579=
NM_001195798.2:c.1736_1737delinsAC	NP_001182727.1:p.Asp579=
NM_001195799.2:c.1613_1614delinsAC	NP_001182728.1:p.Asp538=
NM_001195800.2:c.1232_1233delinsAC	NP_001182729.1:p.Asp411=
NM_001195803.2:c.1355_1356delinsAC	NP_001182732.1:p.Asp452=