Canonical Allele Identifier: CA2322775600

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120442_11120443delinsTC , CM000681.2:g.11120442_11120443delinsTC	GRCh38
NC_000019.9:g.11231118_11231119delinsTC , CM000681.1:g.11231118_11231119delinsTC	GRCh37
NC_000019.8:g.11092118_11092119delinsTC	NCBI36
NG_009060.1:g.36062_36063delinsTC , LRG_274:g.36062_36063delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2318_2319delinsTC	ENSP00000252444.6:p.Ile773=
ENST00000559340.2:c.*129_*130delinsTC	ENSP00000453696.2:n.*129_*130delinsTC
ENST00000560467.2:c.1940_1941delinsTC	ENSP00000453513.2:p.Ile647=
ENST00000558518.6:c.2060_2061delinsTC MANE Select	ENSP00000454071.1:p.Ile687=
ENST00000252444.9:c.2314_2315delinsTC
ENST00000455727.6:c.1556_1557delinsTC	ENSP00000397829.2:p.Ile519=
ENST00000535915.5:c.1937_1938delinsTC	ENSP00000440520.1:p.Ile646=
ENST00000545707.5:c.1606+209_1606+210delinsTC	ENSP00000437639.1:n.1606+209_1606+210deli...
ENST00000557933.5:c.2060_2061delinsTC	ENSP00000453557.1:p.Ile687=
ENST00000558013.5:c.2060_2061delinsTC	ENSP00000453346.1:p.Ile687=
ENST00000558518.5:c.2060_2061delinsTC	ENSP00000454071.1:p.Ile687=
NM_000527.4:c.2060_2061delinsTC , LRG_274t1:c.2060_2061delinsTC	NP_000518.1:p.Ile687=
NM_001195798.1:c.2060_2061delinsTC	NP_001182727.1:p.Ile687=
NM_001195799.1:c.1937_1938delinsTC	NP_001182728.1:p.Ile646=
NM_001195800.1:c.1556_1557delinsTC	NP_001182729.1:p.Ile519=
NM_001195803.1:c.1606+209_1606+210delinsTC	NP_001182732.1:n.1606+209_1606+210delinsT...
XM_011528010.1:c.2060_2061delinsTC	XP_011526312.1:p.Ile687=
XM_011528011.1:c.1679_1680delinsTC	XP_011526313.1:p.Ile560=
XR_244074.2:n.2070_2071delinsTC
XM_011528010.2:c.2060_2061delinsTC	XP_011526312.1:p.Ile687=
XR_001753685.2:n.2177_2178delinsTC
XR_001753686.2:n.2037_2038delinsTC
NM_000527.5:c.2060_2061delinsTC MANE Select	NP_000518.1:p.Ile687=
NM_001195798.2:c.2060_2061delinsTC	NP_001182727.1:p.Ile687=
NM_001195799.2:c.1937_1938delinsTC	NP_001182728.1:p.Ile646=
NM_001195800.2:c.1556_1557delinsTC	NP_001182729.1:p.Ile519=
NM_001195803.2:c.1606+209_1606+210delinsTC	NP_001182732.1:n.1606+209_1606+210delinsT...