Canonical Allele Identifier: CA9204954

Gene: LDLR

Linked Data

• dbSNP Id: rs752245043
• ExAC: 19:11230929 A / AC
• gnomAD v2: 19-11230929-A-AC
• gnomAD v3: 19-11120253-A-AC
• gnomAD v4: 19-11120253-A-AC
• MyVariant Identifiers: chr19:g.11230930_11230931insC (hg19) ; chr19:g.11230929_11230930insC (hg19) ; chr19:g.11120253_11120254insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120260dup , CM000681.2:g.11120260dup	GRCh38
NC_000019.9:g.11230936dup , CM000681.1:g.11230936dup	GRCh37
NC_000019.8:g.11091936dup	NCBI36
NG_009060.1:g.35880dup , LRG_274:g.35880dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2245+27dup	ENSP00000252444.6:n.2245+27dup
ENST00000559340.2:c.*56+27dup	ENSP00000453696.2:n.*56+27dup
ENST00000560467.2:c.1867+27dup	ENSP00000453513.2:n.1867+27dup
ENST00000558518.6:c.1987+27dup MANE Select	ENSP00000454071.1:n.1987+27dup
ENST00000252444.9:c.2241+27dup
ENST00000455727.6:c.1483+27dup	ENSP00000397829.2:n.1483+27dup
ENST00000535915.5:c.1864+27dup	ENSP00000440520.1:n.1864+27dup
ENST00000545707.5:c.1606+27dup	ENSP00000437639.1:n.1606+27dup
ENST00000557933.5:c.1987+27dup	ENSP00000453557.1:n.1987+27dup
ENST00000558013.5:c.1987+27dup	ENSP00000453346.1:n.1987+27dup
ENST00000558518.5:c.1987+27dup	ENSP00000454071.1:n.1987+27dup
ENST00000559340.1:c.568+27dup
NM_000527.4:c.1987+27dup , LRG_274t1:c.1987+27dup	NP_000518.1:n.1987+27dup
NM_001195798.1:c.1987+27dup	NP_001182727.1:n.1987+27dup
NM_001195799.1:c.1864+27dup	NP_001182728.1:n.1864+27dup
NM_001195800.1:c.1483+27dup	NP_001182729.1:n.1483+27dup
NM_001195803.1:c.1606+27dup	NP_001182732.1:n.1606+27dup
XM_011528010.1:c.1987+27dup	XP_011526312.1:n.1987+27dup
XM_011528011.1:c.1606+27dup	XP_011526313.1:n.1606+27dup
XR_244074.2:n.1997+27dup
XM_011528010.2:c.1987+27dup	XP_011526312.1:n.1987+27dup
XR_001753685.2:n.2104+27dup
XR_001753686.2:n.1964+27dup
NM_000527.5:c.1987+27dup MANE Select	NP_000518.1:n.1987+27dup
NM_001195798.2:c.1987+27dup	NP_001182727.1:n.1987+27dup
NM_001195799.2:c.1864+27dup	NP_001182728.1:n.1864+27dup
NM_001195800.2:c.1483+27dup	NP_001182729.1:n.1483+27dup
NM_001195803.2:c.1606+27dup	NP_001182732.1:n.1606+27dup