Canonical Allele Identifier: CA783247951

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230874_11230875insAT (hg19) ; chr19:g.11120198_11120199insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120198_11120199insAT , CM000681.2:g.11120198_11120199insAT	GRCh38
NC_000019.9:g.11230874_11230875insAT , CM000681.1:g.11230874_11230875insAT	GRCh37
NC_000019.8:g.11091874_11091875insAT	NCBI36
NG_009060.1:g.35818_35819insAT , LRG_274:g.35818_35819insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2210_2211insAT	ENSP00000252444.6:p.Asp737GlufsTer15
ENST00000559340.2:c.*21_*22insAT	ENSP00000453696.2:n.*21_*22insAT
ENST00000560467.2:c.1832_1833insAT	ENSP00000453513.2:p.Asp611GlufsTer15
ENST00000558518.6:c.1952_1953insAT MANE Select	ENSP00000454071.1:p.Asp651GlufsTer15
ENST00000252444.9:c.2206_2207insAT
ENST00000455727.6:c.1448_1449insAT	ENSP00000397829.2:p.Asp483GlufsTer15
ENST00000535915.5:c.1829_1830insAT	ENSP00000440520.1:p.Asp610GlufsTer15
ENST00000545707.5:c.1571_1572insAT	ENSP00000437639.1:p.Asp524GlufsTer29
ENST00000557933.5:c.1952_1953insAT	ENSP00000453557.1:p.Asp651GlufsTer15
ENST00000558013.5:c.1952_1953insAT	ENSP00000453346.1:p.Asp651GlufsTer15
ENST00000558518.5:c.1952_1953insAT	ENSP00000454071.1:p.Asp651GlufsTer15
ENST00000559340.1:c.533_534insAT
NM_000527.4:c.1952_1953insAT , LRG_274t1:c.1952_1953insAT	NP_000518.1:p.Asp651GlufsTer15
NM_001195798.1:c.1952_1953insAT	NP_001182727.1:p.Asp651GlufsTer15
NM_001195799.1:c.1829_1830insAT	NP_001182728.1:p.Asp610GlufsTer15
NM_001195800.1:c.1448_1449insAT	NP_001182729.1:p.Asp483GlufsTer15
NM_001195803.1:c.1571_1572insAT	NP_001182732.1:p.Asp524GlufsTer29
XM_011528010.1:c.1952_1953insAT	XP_011526312.1:p.Asp651GlufsTer15
XM_011528011.1:c.1571_1572insAT	XP_011526313.1:p.Asp524GlufsTer15
XR_244074.2:n.1962_1963insAT
XM_011528010.2:c.1952_1953insAT	XP_011526312.1:p.Asp651GlufsTer15
XR_001753685.2:n.2069_2070insAT
XR_001753686.2:n.1929_1930insAT
NM_000527.5:c.1952_1953insAT MANE Select	NP_000518.1:p.Asp651GlufsTer15
NM_001195798.2:c.1952_1953insAT	NP_001182727.1:p.Asp651GlufsTer15
NM_001195799.2:c.1829_1830insAT	NP_001182728.1:p.Asp610GlufsTer15
NM_001195800.2:c.1448_1449insAT	NP_001182729.1:p.Asp483GlufsTer15
NM_001195803.2:c.1571_1572insAT	NP_001182732.1:p.Asp524GlufsTer29