Canonical Allele Identifier: CA2497030113

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105260_11105261insTGGC , CM000681.2:g.11105260_11105261insTGGC	GRCh38
NC_000019.9:g.11215936_11215937insTGGC , CM000681.1:g.11215936_11215937insTGGC	GRCh37
NC_000019.8:g.11076936_11076937insTGGC	NCBI36
NG_009060.1:g.20880_20881insTGGC , LRG_274:g.20880_20881insTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.612_613insTGGC	ENSP00000252444.6:p.Gly205TrpfsTer12
ENST00000559340.2:c.354_355insTGGC	ENSP00000453696.2:p.Gly119TrpfsTer12
ENST00000560467.2:c.354_355insTGGC	ENSP00000453513.2:p.Gly119TrpfsTer12
ENST00000558518.6:c.354_355insTGGC MANE Select	ENSP00000454071.1:p.Gly119TrpfsTer12
ENST00000252444.9:c.608_609insTGGC
ENST00000455727.6:c.314-2132_314-2131insTGGC	ENSP00000397829.2:n.314-2132_314-2131insTGGC
ENST00000535915.5:c.231_232insTGGC	ENSP00000440520.1:p.Gly78TrpfsTer12
ENST00000545707.5:c.314-1305_314-1304insTGGC	ENSP00000437639.1:n.314-1305_314-1304insTGGC
ENST00000557933.5:c.354_355insTGGC	ENSP00000453557.1:p.Gly119TrpfsTer12
ENST00000558013.5:c.354_355insTGGC	ENSP00000453346.1:p.Gly119TrpfsTer12
ENST00000558518.5:c.354_355insTGGC	ENSP00000454071.1:p.Gly119TrpfsTer12
NM_000527.4:c.354_355insTGGC , LRG_274t1:c.354_355insTGGC	NP_000518.1:p.Gly119TrpfsTer12
NM_001195798.1:c.354_355insTGGC	NP_001182727.1:p.Gly119TrpfsTer12
NM_001195799.1:c.231_232insTGGC	NP_001182728.1:p.Gly78TrpfsTer12
NM_001195800.1:c.314-2132_314-2131insTGGC	NP_001182729.1:n.314-2132_314-2131insTGGC
NM_001195803.1:c.314-1305_314-1304insTGGC	NP_001182732.1:n.314-1305_314-1304insTGGC
XM_011528010.1:c.354_355insTGGC	XP_011526312.1:p.Gly119TrpfsTer12
XM_011528011.1:c.314-1305_314-1304insTGGC	XP_011526313.1:n.314-1305_314-1304insTGGC
XR_244074.2:n.504_505insTGGC
XM_011528010.2:c.354_355insTGGC	XP_011526312.1:p.Gly119TrpfsTer12
XR_001753685.2:n.471_472insTGGC
XR_001753686.2:n.471_472insTGGC
NM_000527.5:c.354_355insTGGC MANE Select	NP_000518.1:p.Gly119TrpfsTer12
NM_001195798.2:c.354_355insTGGC	NP_001182727.1:p.Gly119TrpfsTer12
NM_001195799.2:c.231_232insTGGC	NP_001182728.1:p.Gly78TrpfsTer12
NM_001195800.2:c.314-2132_314-2131insTGGC	NP_001182729.1:n.314-2132_314-2131insTGGC
NM_001195803.2:c.314-1305_314-1304insTGGC	NP_001182732.1:n.314-1305_314-1304insTGGC