Canonical Allele Identifier: CA657203516

Gene: LDLR LDLR-AS1

Linked Data

• COSMIC: COSN20079625

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089412_11089413insT , CM000681.2:g.11089412_11089413insT	GRCh38
NC_000019.9:g.11200088_11200089insT , CM000681.1:g.11200088_11200089insT	GRCh37
NC_000019.8:g.11061088_11061089insT	NCBI36
NG_009060.1:g.5032_5033insT , LRG_274:g.5032_5033insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558518.5:c.-137_-136insT (LDLR)	ENSP00000454071.1:n.-137_-136insT
NM_000527.4:c.-137_-136insT , LRG_274t1:c.-137_-136insT (LDLR)	NP_000518.1:n.-137_-136insT
NM_001195798.1:c.-137_-136insT (LDLR)	NP_001182727.1:n.-137_-136insT
NM_001195799.1:c.-137_-136insT (LDLR)	NP_001182728.1:n.-137_-136insT
NM_001195800.1:c.-137_-136insT (LDLR)	NP_001182729.1:n.-137_-136insT
NM_001195803.1:c.-137_-136insT (LDLR)	NP_001182732.1:n.-137_-136insT
XM_011528010.1:c.-137_-136insT (LDLR)	XP_011526312.1:n.-137_-136insT
XM_011528011.1:c.-137_-136insT (LDLR)	XP_011526313.1:n.-137_-136insT
XR_244074.2:n.14_15insT (LDLR)
NR_163945.1:n.247_248insA (LDLR-AS1)