Canonical Allele Identifier: CA2695228137

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116209del , CM000681.2:g.11116209del	GRCh38
NC_000019.9:g.11226885del , CM000681.1:g.11226885del	GRCh37
NC_000019.8:g.11087885del	NCBI36
NG_009060.1:g.31829del , LRG_274:g.31829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1960del	ENSP00000252444.6:p.Leu654Ter
ENST00000559340.2:c.1702del	ENSP00000453696.2:p.Leu568Ter
ENST00000560467.2:c.1582del	ENSP00000453513.2:p.Leu528Ter
ENST00000558518.6:c.1702del MANE Select	ENSP00000454071.1:p.Leu568Ter
ENST00000252444.9:c.1956del
ENST00000455727.6:c.1198del	ENSP00000397829.2:p.Leu400Ter
ENST00000535915.5:c.1579del	ENSP00000440520.1:p.Leu527Ter
ENST00000545707.5:c.1321del	ENSP00000437639.1:p.Leu441Ter
ENST00000557933.5:c.1702del	ENSP00000453557.1:p.Leu568Ter
ENST00000558013.5:c.1702del	ENSP00000453346.1:p.Leu568Ter
ENST00000558518.5:c.1702del	ENSP00000454071.1:p.Leu568Ter
ENST00000559340.1:c.423del
NM_000527.4:c.1702del , LRG_274t1:c.1702del	NP_000518.1:p.Leu568Ter
NM_001195798.1:c.1702del	NP_001182727.1:p.Leu568Ter
NM_001195799.1:c.1579del	NP_001182728.1:p.Leu527Ter
NM_001195800.1:c.1198del	NP_001182729.1:p.Leu400Ter
NM_001195803.1:c.1321del	NP_001182732.1:p.Leu441Ter
XM_011528010.1:c.1702del	XP_011526312.1:p.Leu568Ter
XM_011528011.1:c.1321del	XP_011526313.1:p.Leu441Ter
XR_244074.2:n.1852del
XM_011528010.2:c.1702del	XP_011526312.1:p.Leu568Ter
XR_001753685.2:n.1819del
XR_001753686.2:n.1819del
NM_000527.5:c.1702del MANE Select	NP_000518.1:p.Leu568Ter
NM_001195798.2:c.1702del	NP_001182727.1:p.Leu568Ter
NM_001195799.2:c.1579del	NP_001182728.1:p.Leu527Ter
NM_001195800.2:c.1198del	NP_001182729.1:p.Leu400Ter
NM_001195803.2:c.1321del	NP_001182732.1:p.Leu441Ter