Canonical Allele Identifier: CA2582472376

Gene: LDLR

Linked Data

• gnomAD v4: 19-11102967-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102967_11102968insTG , CM000681.2:g.11102967_11102968insTG	GRCh38
NC_000019.9:g.11213643_11213644insTG , CM000681.1:g.11213643_11213644insTG	GRCh37
NC_000019.8:g.11074643_11074644insTG	NCBI36
NG_009060.1:g.18587_18588insTG , LRG_274:g.18587_18588insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571+181_571+182insTG	ENSP00000252444.6:n.571+181_571+182insTG
ENST00000559340.2:c.313+181_313+182insTG	ENSP00000453696.2:n.313+181_313+182insTG
ENST00000560467.2:c.313+181_313+182insTG	ENSP00000453513.2:n.313+181_313+182insTG
ENST00000558518.6:c.313+181_313+182insTG MANE Select	ENSP00000454071.1:n.313+181_313+182insTG
ENST00000252444.9:c.567+181_567+182insTG
ENST00000455727.6:c.313+181_313+182insTG	ENSP00000397829.2:n.313+181_313+182insTG
ENST00000535915.5:c.191-2253_191-2252insTG	ENSP00000440520.1:n.191-2253_191-2252insTG
ENST00000545707.5:c.313+181_313+182insTG	ENSP00000437639.1:n.313+181_313+182insTG
ENST00000557933.5:c.313+181_313+182insTG	ENSP00000453557.1:n.313+181_313+182insTG
ENST00000557958.1:n.580_581insTG
ENST00000558013.5:c.313+181_313+182insTG	ENSP00000453346.1:n.313+181_313+182insTG
ENST00000558518.5:c.313+181_313+182insTG	ENSP00000454071.1:n.313+181_313+182insTG
NM_000527.4:c.313+181_313+182insTG , LRG_274t1:c.313+181_313+182insTG	NP_000518.1:n.313+181_313+182insTG
NM_001195798.1:c.313+181_313+182insTG	NP_001182727.1:n.313+181_313+182insTG
NM_001195799.1:c.191-2253_191-2252insTG	NP_001182728.1:n.191-2253_191-2252insTG
NM_001195800.1:c.313+181_313+182insTG	NP_001182729.1:n.313+181_313+182insTG
NM_001195803.1:c.313+181_313+182insTG	NP_001182732.1:n.313+181_313+182insTG
XM_011528010.1:c.313+181_313+182insTG	XP_011526312.1:n.313+181_313+182insTG
XM_011528011.1:c.313+181_313+182insTG	XP_011526313.1:n.313+181_313+182insTG
XR_244074.2:n.463+181_463+182insTG
XM_011528010.2:c.313+181_313+182insTG	XP_011526312.1:n.313+181_313+182insTG
XR_001753685.2:n.430+181_430+182insTG
XR_001753686.2:n.430+181_430+182insTG
NM_000527.5:c.313+181_313+182insTG MANE Select	NP_000518.1:n.313+181_313+182insTG
NM_001195798.2:c.313+181_313+182insTG	NP_001182727.1:n.313+181_313+182insTG
NM_001195799.2:c.191-2253_191-2252insTG	NP_001182728.1:n.191-2253_191-2252insTG
NM_001195800.2:c.313+181_313+182insTG	NP_001182729.1:n.313+181_313+182insTG
NM_001195803.2:c.313+181_313+182insTG	NP_001182732.1:n.313+181_313+182insTG