Canonical Allele Identifier: CA2582472268

Gene: LDLR

Linked Data

• gnomAD v4: 19-11102847-T-TACGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102847_11102848insACGGG , CM000681.2:g.11102847_11102848insACGGG	GRCh38
NC_000019.9:g.11213523_11213524insACGGG , CM000681.1:g.11213523_11213524insACGGG	GRCh37
NC_000019.8:g.11074523_11074524insACGGG	NCBI36
NG_009060.1:g.18467_18468insACGGG , LRG_274:g.18467_18468insACGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571+61_571+62insACGGG	ENSP00000252444.6:n.571+61_571+62insACGGG
ENST00000559340.2:c.313+61_313+62insACGGG	ENSP00000453696.2:n.313+61_313+62insACGGG
ENST00000560467.2:c.313+61_313+62insACGGG	ENSP00000453513.2:n.313+61_313+62insACGGG
ENST00000558518.6:c.313+61_313+62insACGGG MANE Select	ENSP00000454071.1:n.313+61_313+62insACGGG
ENST00000252444.9:c.567+61_567+62insACGGG
ENST00000455727.6:c.313+61_313+62insACGGG	ENSP00000397829.2:n.313+61_313+62insACGGG
ENST00000535915.5:c.191-2373_191-2372insACGGG	ENSP00000440520.1:n.191-2373_191-2372insACGGG
ENST00000545707.5:c.313+61_313+62insACGGG	ENSP00000437639.1:n.313+61_313+62insACGGG
ENST00000557933.5:c.313+61_313+62insACGGG	ENSP00000453557.1:n.313+61_313+62insACGGG
ENST00000557958.1:n.460_461insACGGG
ENST00000558013.5:c.313+61_313+62insACGGG	ENSP00000453346.1:n.313+61_313+62insACGGG
ENST00000558518.5:c.313+61_313+62insACGGG	ENSP00000454071.1:n.313+61_313+62insACGGG
NM_000527.4:c.313+61_313+62insACGGG , LRG_274t1:c.313+61_313+62insACGGG	NP_000518.1:n.313+61_313+62insACGGG
NM_001195798.1:c.313+61_313+62insACGGG	NP_001182727.1:n.313+61_313+62insACGGG
NM_001195799.1:c.191-2373_191-2372insACGGG	NP_001182728.1:n.191-2373_191-2372insACGGG
NM_001195800.1:c.313+61_313+62insACGGG	NP_001182729.1:n.313+61_313+62insACGGG
NM_001195803.1:c.313+61_313+62insACGGG	NP_001182732.1:n.313+61_313+62insACGGG
XM_011528010.1:c.313+61_313+62insACGGG	XP_011526312.1:n.313+61_313+62insACGGG
XM_011528011.1:c.313+61_313+62insACGGG	XP_011526313.1:n.313+61_313+62insACGGG
XR_244074.2:n.463+61_463+62insACGGG
XM_011528010.2:c.313+61_313+62insACGGG	XP_011526312.1:n.313+61_313+62insACGGG
XR_001753685.2:n.430+61_430+62insACGGG
XR_001753686.2:n.430+61_430+62insACGGG
NM_000527.5:c.313+61_313+62insACGGG MANE Select	NP_000518.1:n.313+61_313+62insACGGG
NM_001195798.2:c.313+61_313+62insACGGG	NP_001182727.1:n.313+61_313+62insACGGG
NM_001195799.2:c.191-2373_191-2372insACGGG	NP_001182728.1:n.191-2373_191-2372insACGGG
NM_001195800.2:c.313+61_313+62insACGGG	NP_001182729.1:n.313+61_313+62insACGGG
NM_001195803.2:c.313+61_313+62insACGGG	NP_001182732.1:n.313+61_313+62insACGGG