Canonical Allele Identifier: CA2582471922

Gene: LDLR

Linked Data

• gnomAD v4: 19-11100211-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100219_11100220del , CM000681.2:g.11100219_11100220del	GRCh38
NC_000019.9:g.11210895_11210896del , CM000681.1:g.11210895_11210896del	GRCh37
NC_000019.8:g.11071895_11071896del	NCBI36
NG_009060.1:g.15839_15840del , LRG_274:g.15839_15840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.326-4_326-3del	ENSP00000252444.6:n.326-4_326-3del
ENST00000559340.2:c.68-4_68-3del	ENSP00000453696.2:n.68-4_68-3del
ENST00000560467.2:c.68-4_68-3del	ENSP00000453513.2:n.68-4_68-3del
ENST00000558518.6:c.68-4_68-3del MANE Select	ENSP00000454071.1:n.68-4_68-3del
ENST00000252444.9:c.322-4_322-3del
ENST00000455727.6:c.68-4_68-3del	ENSP00000397829.2:n.68-4_68-3del
ENST00000535915.5:c.68-4_68-3del	ENSP00000440520.1:n.68-4_68-3del
ENST00000545707.5:c.68-4_68-3del	ENSP00000437639.1:n.68-4_68-3del
ENST00000557933.5:c.68-4_68-3del	ENSP00000453557.1:n.68-4_68-3del
ENST00000557958.1:n.154-4_154-3del
ENST00000558013.5:c.68-4_68-3del	ENSP00000453346.1:n.68-4_68-3del
ENST00000558518.5:c.68-4_68-3del	ENSP00000454071.1:n.68-4_68-3del
ENST00000560502.5:n.154-4_154-3del
NM_000527.4:c.68-4_68-3del , LRG_274t1:c.68-4_68-3del	NP_000518.1:n.68-4_68-3del
NM_001195798.1:c.68-4_68-3del	NP_001182727.1:n.68-4_68-3del
NM_001195799.1:c.68-4_68-3del	NP_001182728.1:n.68-4_68-3del
NM_001195800.1:c.68-4_68-3del	NP_001182729.1:n.68-4_68-3del
NM_001195803.1:c.68-4_68-3del	NP_001182732.1:n.68-4_68-3del
XM_011528010.1:c.68-4_68-3del	XP_011526312.1:n.68-4_68-3del
XM_011528011.1:c.68-4_68-3del	XP_011526313.1:n.68-4_68-3del
XR_244074.2:n.218-4_218-3del
XM_011528010.2:c.68-4_68-3del	XP_011526312.1:n.68-4_68-3del
XR_001753685.2:n.185-4_185-3del
XR_001753686.2:n.185-4_185-3del
NM_000527.5:c.68-4_68-3del MANE Select	NP_000518.1:n.68-4_68-3del
NM_001195798.2:c.68-4_68-3del	NP_001182727.1:n.68-4_68-3del
NM_001195799.2:c.68-4_68-3del	NP_001182728.1:n.68-4_68-3del
NM_001195800.2:c.68-4_68-3del	NP_001182729.1:n.68-4_68-3del
NM_001195803.2:c.68-4_68-3del	NP_001182732.1:n.68-4_68-3del