Canonical Allele Identifier: CA2573050620

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120484del , CM000681.2:g.11120484del	GRCh38
NC_000019.9:g.11231160del , CM000681.1:g.11231160del	GRCh37
NC_000019.8:g.11092160del	NCBI36
NG_009060.1:g.36104del , LRG_274:g.36104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2360del	ENSP00000252444.6:p.Gly787AlafsTer8
ENST00000559340.2:c.*171del	ENSP00000453696.2:n.*171del
ENST00000560467.2:c.1982del	ENSP00000453513.2:p.Gly661AlafsTer8
ENST00000558518.6:c.2102del MANE Select	ENSP00000454071.1:p.Gly701AlafsTer8
ENST00000252444.9:c.2356del
ENST00000455727.6:c.1598del	ENSP00000397829.2:p.Gly533AlafsTer8
ENST00000535915.5:c.1979del	ENSP00000440520.1:p.Gly660AlafsTer8
ENST00000545707.5:c.1606+251del	ENSP00000437639.1:n.1606+251del
ENST00000557933.5:c.2102del	ENSP00000453557.1:p.Gly701AlafsTer8
ENST00000558013.5:c.2102del	ENSP00000453346.1:p.Gly701AlafsTer8
ENST00000558518.5:c.2102del	ENSP00000454071.1:p.Gly701AlafsTer8
NM_000527.4:c.2102del , LRG_274t1:c.2102del	NP_000518.1:p.Gly701AlafsTer8
NM_001195798.1:c.2102del	NP_001182727.1:p.Gly701AlafsTer8
NM_001195799.1:c.1979del	NP_001182728.1:p.Gly660AlafsTer8
NM_001195800.1:c.1598del	NP_001182729.1:p.Gly533AlafsTer8
NM_001195803.1:c.1606+251del	NP_001182732.1:n.1606+251del
XM_011528010.1:c.2102del	XP_011526312.1:p.Gly701AlafsTer8
XM_011528011.1:c.1721del	XP_011526313.1:p.Gly574AlafsTer8
XR_244074.2:n.2112del
XM_011528010.2:c.2102del	XP_011526312.1:p.Gly701AlafsTer8
XR_001753685.2:n.2219del
XR_001753686.2:n.2079del
NM_000527.5:c.2102del MANE Select	NP_000518.1:p.Gly701AlafsTer8
NM_001195798.2:c.2102del	NP_001182727.1:p.Gly701AlafsTer8
NM_001195799.2:c.1979del	NP_001182728.1:p.Gly660AlafsTer8
NM_001195800.2:c.1598del	NP_001182729.1:p.Gly533AlafsTer8
NM_001195803.2:c.1606+251del	NP_001182732.1:n.1606+251del