Canonical Allele Identifier: CA783251119

Gene: LDLR

Linked Data

• dbSNP Id: rs1328771917
• gnomAD v3: 19-11123385-AC-A
• gnomAD v4: 19-11123385-AC-A
• MyVariant Identifiers: chr19:g.11234062del (hg19) ; chr19:g.11123386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123386del , CM000681.2:g.11123386del	GRCh38
NC_000019.9:g.11234062del , CM000681.1:g.11234062del	GRCh37
NC_000019.8:g.11095062del	NCBI36
NG_009060.1:g.39006del , LRG_274:g.39006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+42del	ENSP00000252444.6:n.2569+42del
ENST00000559340.2:c.*380+42del	ENSP00000453696.2:n.*380+42del
ENST00000560467.2:c.2191+42del	ENSP00000453513.2:n.2191+42del
ENST00000558518.6:c.2311+42del MANE Select	ENSP00000454071.1:n.2311+42del
ENST00000252444.9:c.2565+42del
ENST00000455727.6:c.1807+42del	ENSP00000397829.2:n.1807+42del
ENST00000535915.5:c.2188+42del	ENSP00000440520.1:n.2188+42del
ENST00000545707.5:c.1777+42del	ENSP00000437639.1:n.1777+42del
ENST00000557933.5:c.2311+42del	ENSP00000453557.1:n.2311+42del
ENST00000558013.5:c.2311+42del	ENSP00000453346.1:n.2311+42del
ENST00000558518.5:c.2311+42del	ENSP00000454071.1:n.2311+42del
NM_000527.4:c.2311+42del , LRG_274t1:c.2311+42del	NP_000518.1:n.2311+42del
NM_001195798.1:c.2311+42del	NP_001182727.1:n.2311+42del
NM_001195799.1:c.2188+42del	NP_001182728.1:n.2188+42del
NM_001195800.1:c.1807+42del	NP_001182729.1:n.1807+42del
NM_001195803.1:c.1777+42del	NP_001182732.1:n.1777+42del
XM_011528010.1:c.2311+42del	XP_011526312.1:n.2311+42del
XM_011528011.1:c.1930+42del	XP_011526313.1:n.1930+42del
XR_244074.2:n.2321+42del
XM_011528010.2:c.2311+42del	XP_011526312.1:n.2311+42del
XR_001753685.2:n.2645+42del
XR_001753686.2:n.2288+42del
NM_000527.5:c.2311+42del MANE Select	NP_000518.1:n.2311+42del
NM_001195798.2:c.2311+42del	NP_001182727.1:n.2311+42del
NM_001195799.2:c.2188+42del	NP_001182728.1:n.2188+42del
NM_001195800.2:c.1807+42del	NP_001182729.1:n.1807+42del
NM_001195803.2:c.1777+42del	NP_001182732.1:n.1777+42del