Canonical Allele Identifier: CA2322775602

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120443_11120444delinsCA , CM000681.2:g.11120443_11120444delinsCA	GRCh38
NC_000019.9:g.11231119_11231120delinsCA , CM000681.1:g.11231119_11231120delinsCA	GRCh37
NC_000019.8:g.11092119_11092120delinsCA	NCBI36
NG_009060.1:g.36063_36064delinsCA , LRG_274:g.36063_36064delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2319_2320delinsCA	ENSP00000252444.6:p.Ile773=
ENST00000559340.2:c.*130_*131delinsCA	ENSP00000453696.2:n.*130_*131delinsCA
ENST00000560467.2:c.1941_1942delinsCA	ENSP00000453513.2:p.Ile647=
ENST00000558518.6:c.2061_2062delinsCA MANE Select	ENSP00000454071.1:p.Ile687=
ENST00000252444.9:c.2315_2316delinsCA
ENST00000455727.6:c.1557_1558delinsCA	ENSP00000397829.2:p.Ile519=
ENST00000535915.5:c.1938_1939delinsCA	ENSP00000440520.1:p.Ile646=
ENST00000545707.5:c.1606+210_1606+211delinsCA	ENSP00000437639.1:n.1606+210_1606+211deli...
ENST00000557933.5:c.2061_2062delinsCA	ENSP00000453557.1:p.Ile687=
ENST00000558013.5:c.2061_2062delinsCA	ENSP00000453346.1:p.Ile687=
ENST00000558518.5:c.2061_2062delinsCA	ENSP00000454071.1:p.Ile687=
NM_000527.4:c.2061_2062delinsCA , LRG_274t1:c.2061_2062delinsCA	NP_000518.1:p.Ile687=
NM_001195798.1:c.2061_2062delinsCA	NP_001182727.1:p.Ile687=
NM_001195799.1:c.1938_1939delinsCA	NP_001182728.1:p.Ile646=
NM_001195800.1:c.1557_1558delinsCA	NP_001182729.1:p.Ile519=
NM_001195803.1:c.1606+210_1606+211delinsCA	NP_001182732.1:n.1606+210_1606+211delinsC...
XM_011528010.1:c.2061_2062delinsCA	XP_011526312.1:p.Ile687=
XM_011528011.1:c.1680_1681delinsCA	XP_011526313.1:p.Ile560=
XR_244074.2:n.2071_2072delinsCA
XM_011528010.2:c.2061_2062delinsCA	XP_011526312.1:p.Ile687=
XR_001753685.2:n.2178_2179delinsCA
XR_001753686.2:n.2038_2039delinsCA
NM_000527.5:c.2061_2062delinsCA MANE Select	NP_000518.1:p.Ile687=
NM_001195798.2:c.2061_2062delinsCA	NP_001182727.1:p.Ile687=
NM_001195799.2:c.1938_1939delinsCA	NP_001182728.1:p.Ile646=
NM_001195800.2:c.1557_1558delinsCA	NP_001182729.1:p.Ile519=
NM_001195803.2:c.1606+210_1606+211delinsCA	NP_001182732.1:n.1606+210_1606+211delinsC...