Canonical Allele Identifier: CA2322759670

Gene: LDLR LDLR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089362_11089365delinsCTCT , CM000681.2:g.11089362_11089365delinsCTCT	GRCh38
NC_000019.9:g.11200038_11200041delinsCTCT , CM000681.1:g.11200038_11200041delinsCTCT	GRCh37
NC_000019.8:g.11061038_11061041delinsCTCT	NCBI36
NG_009060.1:g.4982_4985delinsCTCT , LRG_274:g.4982_4985delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558518.5:c.-187_-184delinsCTCT (LDLR)	ENSP00000454071.1:n.-187_-184delinsCTCT
NM_000527.4:c.-187_-184delinsCTCT , LRG_274t1:c.-187_-184delinsCTCT (LDLR)	NP_000518.1:n.-187_-184delinsCTCT
NM_001195798.1:c.-187_-184delinsCTCT (LDLR)	NP_001182727.1:n.-187_-184delinsCTCT
NM_001195799.1:c.-187_-184delinsCTCT (LDLR)	NP_001182728.1:n.-187_-184delinsCTCT
NM_001195800.1:c.-187_-184delinsCTCT (LDLR)	NP_001182729.1:n.-187_-184delinsCTCT
NM_001195803.1:c.-187_-184delinsCTCT (LDLR)	NP_001182732.1:n.-187_-184delinsCTCT
NR_163945.1:n.295_298delinsAGAG (LDLR-AS1)