Canonical Allele Identifier: CA2322764736

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100291_11100297delinsTGCGATG , CM000681.2:g.11100291_11100297delinsTGCGATG	GRCh38
NC_000019.9:g.11210967_11210973delinsTGCGATG , CM000681.1:g.11210967_11210973delinsTGCGATG	GRCh37
NC_000019.8:g.11071967_11071973delinsTGCGATG	NCBI36
NG_009060.1:g.15911_15917delinsTGCGATG , LRG_274:g.15911_15917delinsTGCGATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.394_400delinsTGCGATG	ENSP00000252444.6:p.Cys132=
ENST00000559340.2:c.136_142delinsTGCGATG	ENSP00000453696.2:p.Cys46=
ENST00000560467.2:c.136_142delinsTGCGATG	ENSP00000453513.2:p.Cys46=
ENST00000558518.6:c.136_142delinsTGCGATG MANE Select	ENSP00000454071.1:p.Cys46=
ENST00000252444.9:c.390_396delinsTGCGATG
ENST00000455727.6:c.136_142delinsTGCGATG	ENSP00000397829.2:p.Cys46=
ENST00000535915.5:c.136_142delinsTGCGATG	ENSP00000440520.1:p.Cys46=
ENST00000545707.5:c.136_142delinsTGCGATG	ENSP00000437639.1:p.Cys46=
ENST00000557933.5:c.136_142delinsTGCGATG	ENSP00000453557.1:p.Cys46=
ENST00000557958.1:n.222_228delinsTGCGATG
ENST00000558013.5:c.136_142delinsTGCGATG	ENSP00000453346.1:p.Cys46=
ENST00000558518.5:c.136_142delinsTGCGATG	ENSP00000454071.1:p.Cys46=
ENST00000560502.5:n.222_228delinsTGCGATG
NM_000527.4:c.136_142delinsTGCGATG , LRG_274t1:c.136_142delinsTGCGATG	NP_000518.1:p.Cys46=
NM_001195798.1:c.136_142delinsTGCGATG	NP_001182727.1:p.Cys46=
NM_001195799.1:c.136_142delinsTGCGATG	NP_001182728.1:p.Cys46=
NM_001195800.1:c.136_142delinsTGCGATG	NP_001182729.1:p.Cys46=
NM_001195803.1:c.136_142delinsTGCGATG	NP_001182732.1:p.Cys46=
XM_011528010.1:c.136_142delinsTGCGATG	XP_011526312.1:p.Cys46=
XM_011528011.1:c.136_142delinsTGCGATG	XP_011526313.1:p.Cys46=
XR_244074.2:n.286_292delinsTGCGATG
XM_011528010.2:c.136_142delinsTGCGATG	XP_011526312.1:p.Cys46=
XR_001753685.2:n.253_259delinsTGCGATG
XR_001753686.2:n.253_259delinsTGCGATG
NM_000527.5:c.136_142delinsTGCGATG MANE Select	NP_000518.1:p.Cys46=
NM_001195798.2:c.136_142delinsTGCGATG	NP_001182727.1:p.Cys46=
NM_001195799.2:c.136_142delinsTGCGATG	NP_001182728.1:p.Cys46=
NM_001195800.2:c.136_142delinsTGCGATG	NP_001182729.1:p.Cys46=
NM_001195803.2:c.136_142delinsTGCGATG	NP_001182732.1:p.Cys46=