Canonical Allele Identifier: CA2582475120

Gene: LDLR

Linked Data

• gnomAD v4: 19-11116951-GAGGATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116953_11116959del , CM000681.2:g.11116953_11116959del	GRCh38
NC_000019.9:g.11227629_11227635del , CM000681.1:g.11227629_11227635del	GRCh37
NC_000019.8:g.11088629_11088635del	NCBI36
NG_009060.1:g.32573_32579del , LRG_274:g.32573_32579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2058_2064del	ENSP00000252444.6:p.Asp687ArgfsTer?
ENST00000559340.2:c.1705+741_1705+747del	ENSP00000453696.2:n.1705+741_1705+747del
ENST00000560467.2:c.1680_1686del	ENSP00000453513.2:p.Asp561ArgfsTer?
ENST00000558518.6:c.1800_1806del MANE Select	ENSP00000454071.1:p.Asp601ArgfsTer?
ENST00000252444.9:c.2054_2060del
ENST00000455727.6:c.1296_1302del	ENSP00000397829.2:p.Asp433ArgfsTer?
ENST00000535915.5:c.1677_1683del	ENSP00000440520.1:p.Asp560ArgfsTer?
ENST00000545707.5:c.1419_1425del	ENSP00000437639.1:p.Asp474ArgfsTer?
ENST00000557933.5:c.1800_1806del	ENSP00000453557.1:p.Asp601ArgfsTer?
ENST00000558013.5:c.1800_1806del	ENSP00000453346.1:p.Asp601ArgfsTer?
ENST00000558518.5:c.1800_1806del	ENSP00000454071.1:p.Asp601ArgfsTer?
ENST00000559340.1:c.426+741_426+747del
NM_000527.4:c.1800_1806del , LRG_274t1:c.1800_1806del	NP_000518.1:p.Asp601ArgfsTer?
NM_001195798.1:c.1800_1806del	NP_001182727.1:p.Asp601ArgfsTer?
NM_001195799.1:c.1677_1683del	NP_001182728.1:p.Asp560ArgfsTer?
NM_001195800.1:c.1296_1302del	NP_001182729.1:p.Asp433ArgfsTer?
NM_001195803.1:c.1419_1425del	NP_001182732.1:p.Asp474ArgfsTer?
XM_011528010.1:c.1800_1806del	XP_011526312.1:p.Asp601ArgfsTer?
XM_011528011.1:c.1419_1425del	XP_011526313.1:p.Asp474ArgfsTer?
XR_244074.2:n.1855+741_1855+747del
XM_011528010.2:c.1800_1806del	XP_011526312.1:p.Asp601ArgfsTer?
XR_001753685.2:n.1917_1923del
XR_001753686.2:n.1822+741_1822+747del
NM_000527.5:c.1800_1806del MANE Select	NP_000518.1:p.Asp601ArgfsTer?
NM_001195798.2:c.1800_1806del	NP_001182727.1:p.Asp601ArgfsTer?
NM_001195799.2:c.1677_1683del	NP_001182728.1:p.Asp560ArgfsTer?
NM_001195800.2:c.1296_1302del	NP_001182729.1:p.Asp433ArgfsTer?
NM_001195803.2:c.1419_1425del	NP_001182732.1:p.Asp474ArgfsTer?