Canonical Allele Identifier: CA2695228332

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129538_11129539dup , CM000681.2:g.11129538_11129539dup	GRCh38
NC_000019.9:g.11240214_11240215dup , CM000681.1:g.11240214_11240215dup	GRCh37
NC_000019.8:g.11101214_11101215dup	NCBI36
NG_009060.1:g.45158_45159dup , LRG_274:g.45158_45159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2673_2674dup	ENSP00000252444.6:p.Val892GlyfsTer?
ENST00000559340.2:c.*484_*485dup	ENSP00000453696.2:n.*484_*485dup
ENST00000560467.2:c.2295_2296dup	ENSP00000453513.2:p.Val766GlyfsTer?
ENST00000558518.6:c.2415_2416dup MANE Select	ENSP00000454071.1:p.Val806GlyfsTer?
ENST00000252444.9:c.2669_2670dup
ENST00000455727.6:c.1911_1912dup	ENSP00000397829.2:p.Val638GlyfsTer?
ENST00000535915.5:c.2292_2293dup	ENSP00000440520.1:p.Val765GlyfsTer?
ENST00000545707.5:c.1881_1882dup	ENSP00000437639.1:p.Val628GlyfsTer?
ENST00000557933.5:c.2477_2478dup	ENSP00000453557.1:p.Ser827GlyfsTer11
ENST00000558013.5:c.2415_2416dup	ENSP00000453346.1:p.Val806GlyfsTer?
ENST00000558518.5:c.2415_2416dup	ENSP00000454071.1:p.Val806GlyfsTer?
ENST00000560628.1:n.108+1884_108+1885dup
NM_000527.4:c.2415_2416dup , LRG_274t1:c.2415_2416dup	NP_000518.1:p.Val806GlyfsTer?
NM_001195798.1:c.2415_2416dup	NP_001182727.1:p.Val806GlyfsTer?
NM_001195799.1:c.2292_2293dup	NP_001182728.1:p.Val765GlyfsTer?
NM_001195800.1:c.1911_1912dup	NP_001182729.1:p.Val638GlyfsTer?
NM_001195803.1:c.1881_1882dup	NP_001182732.1:p.Val628GlyfsTer?
XM_011528010.1:c.2337_2338dup	XP_011526312.1:p.Val780GlyfsTer?
XM_011528011.1:c.2034_2035dup	XP_011526313.1:p.Val679GlyfsTer?
XR_244074.2:n.2425_2426dup
XM_011528010.2:c.2337_2338dup	XP_011526312.1:p.Val780GlyfsTer?
XR_001753685.2:n.2749_2750dup
XR_001753686.2:n.2392_2393dup
NM_000527.5:c.2415_2416dup MANE Select	NP_000518.1:p.Val806GlyfsTer?
NM_001195798.2:c.2415_2416dup	NP_001182727.1:p.Val806GlyfsTer?
NM_001195799.2:c.2292_2293dup	NP_001182728.1:p.Val765GlyfsTer?
NM_001195800.2:c.1911_1912dup	NP_001182729.1:p.Val638GlyfsTer?
NM_001195803.2:c.1881_1882dup	NP_001182732.1:p.Val628GlyfsTer?