Canonical Allele Identifier: CA2830773959

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116961_11116963del , CM000681.2:g.11116961_11116963del	GRCh38
NC_000019.9:g.11227637_11227639del , CM000681.1:g.11227637_11227639del	GRCh37
NC_000019.8:g.11088637_11088639del	NCBI36
NG_009060.1:g.32581_32583del , LRG_274:g.32581_32583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2066_2068del	ENSP00000252444.6:p.Lys689del
ENST00000559340.2:c.1705+749_1705+751del	ENSP00000453696.2:n.1705+749_1705+751del
ENST00000560467.2:c.1688_1690del	ENSP00000453513.2:p.Lys563del
ENST00000558518.6:c.1808_1810del MANE Select	ENSP00000454071.1:p.Lys603del
ENST00000252444.9:c.2062_2064del
ENST00000455727.6:c.1304_1306del	ENSP00000397829.2:p.Lys435del
ENST00000535915.5:c.1685_1687del	ENSP00000440520.1:p.Lys562del
ENST00000545707.5:c.1427_1429del	ENSP00000437639.1:p.Lys476del
ENST00000557933.5:c.1808_1810del	ENSP00000453557.1:p.Lys603del
ENST00000558013.5:c.1808_1810del	ENSP00000453346.1:p.Lys603del
ENST00000558518.5:c.1808_1810del	ENSP00000454071.1:p.Lys603del
ENST00000559340.1:c.426+749_426+751del
NM_000527.4:c.1808_1810del , LRG_274t1:c.1808_1810del	NP_000518.1:p.Lys603del
NM_001195798.1:c.1808_1810del	NP_001182727.1:p.Lys603del
NM_001195799.1:c.1685_1687del	NP_001182728.1:p.Lys562del
NM_001195800.1:c.1304_1306del	NP_001182729.1:p.Lys435del
NM_001195803.1:c.1427_1429del	NP_001182732.1:p.Lys476del
XM_011528010.1:c.1808_1810del	XP_011526312.1:p.Lys603del
XM_011528011.1:c.1427_1429del	XP_011526313.1:p.Lys476del
XR_244074.2:n.1855+749_1855+751del
XM_011528010.2:c.1808_1810del	XP_011526312.1:p.Lys603del
XR_001753685.2:n.1925_1927del
XR_001753686.2:n.1822+749_1822+751del
NM_000527.5:c.1808_1810del MANE Select	NP_000518.1:p.Lys603del
NM_001195798.2:c.1808_1810del	NP_001182727.1:p.Lys603del
NM_001195799.2:c.1685_1687del	NP_001182728.1:p.Lys562del
NM_001195800.2:c.1304_1306del	NP_001182729.1:p.Lys435del
NM_001195803.2:c.1427_1429del	NP_001182732.1:p.Lys476del