Canonical Allele Identifier: CA2322777305

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123385_11123386delinsAC , CM000681.2:g.11123385_11123386delinsAC	GRCh38
NC_000019.9:g.11234061_11234062delinsAC , CM000681.1:g.11234061_11234062delinsAC	GRCh37
NC_000019.8:g.11095061_11095062delinsAC	NCBI36
NG_009060.1:g.39005_39006delinsAC , LRG_274:g.39005_39006delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+41_2569+42delinsAC	ENSP00000252444.6:n.2569+41_2569+42delinsAC
ENST00000559340.2:c.*380+41_*380+42delinsAC	ENSP00000453696.2:n.*380+41_*380+42delinsAC
ENST00000560467.2:c.2191+41_2191+42delinsAC	ENSP00000453513.2:n.2191+41_2191+42delinsAC
ENST00000558518.6:c.2311+41_2311+42delinsAC MANE Select	ENSP00000454071.1:n.2311+41_2311+42delinsAC
ENST00000252444.9:c.2565+41_2565+42delinsAC
ENST00000455727.6:c.1807+41_1807+42delinsAC	ENSP00000397829.2:n.1807+41_1807+42delinsAC
ENST00000535915.5:c.2188+41_2188+42delinsAC	ENSP00000440520.1:n.2188+41_2188+42delinsAC
ENST00000545707.5:c.1777+41_1777+42delinsAC	ENSP00000437639.1:n.1777+41_1777+42delinsAC
ENST00000557933.5:c.2311+41_2311+42delinsAC	ENSP00000453557.1:n.2311+41_2311+42delinsAC
ENST00000558013.5:c.2311+41_2311+42delinsAC	ENSP00000453346.1:n.2311+41_2311+42delinsAC
ENST00000558518.5:c.2311+41_2311+42delinsAC	ENSP00000454071.1:n.2311+41_2311+42delinsAC
NM_000527.4:c.2311+41_2311+42delinsAC , LRG_274t1:c.2311+41_2311+42delinsAC	NP_000518.1:n.2311+41_2311+42delinsAC
NM_001195798.1:c.2311+41_2311+42delinsAC	NP_001182727.1:n.2311+41_2311+42delinsAC
NM_001195799.1:c.2188+41_2188+42delinsAC	NP_001182728.1:n.2188+41_2188+42delinsAC
NM_001195800.1:c.1807+41_1807+42delinsAC	NP_001182729.1:n.1807+41_1807+42delinsAC
NM_001195803.1:c.1777+41_1777+42delinsAC	NP_001182732.1:n.1777+41_1777+42delinsAC
XM_011528010.1:c.2311+41_2311+42delinsAC	XP_011526312.1:n.2311+41_2311+42delinsAC
XM_011528011.1:c.1930+41_1930+42delinsAC	XP_011526313.1:n.1930+41_1930+42delinsAC
XR_244074.2:n.2321+41_2321+42delinsAC
XM_011528010.2:c.2311+41_2311+42delinsAC	XP_011526312.1:n.2311+41_2311+42delinsAC
XR_001753685.2:n.2645+41_2645+42delinsAC
XR_001753686.2:n.2288+41_2288+42delinsAC
NM_000527.5:c.2311+41_2311+42delinsAC MANE Select	NP_000518.1:n.2311+41_2311+42delinsAC
NM_001195798.2:c.2311+41_2311+42delinsAC	NP_001182727.1:n.2311+41_2311+42delinsAC
NM_001195799.2:c.2188+41_2188+42delinsAC	NP_001182728.1:n.2188+41_2188+42delinsAC
NM_001195800.2:c.1807+41_1807+42delinsAC	NP_001182729.1:n.1807+41_1807+42delinsAC
NM_001195803.2:c.1777+41_1777+42delinsAC	NP_001182732.1:n.1777+41_1777+42delinsAC