Canonical Allele Identifier: CA2322768663

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107512_11107513delinsGC , CM000681.2:g.11107512_11107513delinsGC	GRCh38
NC_000019.9:g.11218188_11218189delinsGC , CM000681.1:g.11218188_11218189delinsGC	GRCh37
NC_000019.8:g.11079188_11079189delinsGC	NCBI36
NG_009060.1:g.23132_23133delinsGC , LRG_274:g.23132_23133delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1196_1197delinsGC	ENSP00000252444.6:p.Cys399=
ENST00000559340.2:c.938_939delinsGC	ENSP00000453696.2:p.Cys313=
ENST00000560467.2:c.938_939delinsGC	ENSP00000453513.2:p.Cys313=
ENST00000558518.6:c.938_939delinsGC MANE Select	ENSP00000454071.1:p.Cys313=
ENST00000252444.9:c.1192_1193delinsGC
ENST00000455727.6:c.434_435delinsGC	ENSP00000397829.2:p.Cys145=
ENST00000535915.5:c.815_816delinsGC	ENSP00000440520.1:p.Cys272=
ENST00000545707.5:c.557_558delinsGC	ENSP00000437639.1:p.Cys186=
ENST00000557933.5:c.938_939delinsGC	ENSP00000453557.1:p.Cys313=
ENST00000558013.5:c.938_939delinsGC	ENSP00000453346.1:p.Cys313=
ENST00000558518.5:c.938_939delinsGC	ENSP00000454071.1:p.Cys313=
ENST00000558528.1:n.453_454delinsGC
ENST00000560467.1:c.538_539delinsGC
NM_000527.4:c.938_939delinsGC , LRG_274t1:c.938_939delinsGC	NP_000518.1:p.Cys313=
NM_001195798.1:c.938_939delinsGC	NP_001182727.1:p.Cys313=
NM_001195799.1:c.815_816delinsGC	NP_001182728.1:p.Cys272=
NM_001195800.1:c.434_435delinsGC	NP_001182729.1:p.Cys145=
NM_001195803.1:c.557_558delinsGC	NP_001182732.1:p.Cys186=
XM_011528010.1:c.938_939delinsGC	XP_011526312.1:p.Cys313=
XM_011528011.1:c.557_558delinsGC	XP_011526313.1:p.Cys186=
XR_244074.2:n.1088_1089delinsGC
XM_011528010.2:c.938_939delinsGC	XP_011526312.1:p.Cys313=
XR_001753685.2:n.1055_1056delinsGC
XR_001753686.2:n.1055_1056delinsGC
NM_000527.5:c.938_939delinsGC MANE Select	NP_000518.1:p.Cys313=
NM_001195798.2:c.938_939delinsGC	NP_001182727.1:p.Cys313=
NM_001195799.2:c.815_816delinsGC	NP_001182728.1:p.Cys272=
NM_001195800.2:c.434_435delinsGC	NP_001182729.1:p.Cys145=
NM_001195803.2:c.557_558delinsGC	NP_001182732.1:p.Cys186=