Canonical Allele Identifier: CA2576626080

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120326-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120331_11120333del , CM000681.2:g.11120331_11120333del	GRCh38
NC_000019.9:g.11231007_11231009del , CM000681.1:g.11231007_11231009del	GRCh37
NC_000019.8:g.11092007_11092009del	NCBI36
NG_009060.1:g.35951_35953del , LRG_274:g.35951_35953del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2246-39_2246-37del	ENSP00000252444.6:n.2246-39_2246-37del
ENST00000559340.2:c.*57-39_*57-37del	ENSP00000453696.2:n.*57-39_*57-37del
ENST00000560467.2:c.1868-39_1868-37del	ENSP00000453513.2:n.1868-39_1868-37del
ENST00000558518.6:c.1988-39_1988-37del MANE Select	ENSP00000454071.1:n.1988-39_1988-37del
ENST00000252444.9:c.2242-39_2242-37del
ENST00000455727.6:c.1484-39_1484-37del	ENSP00000397829.2:n.1484-39_1484-37del
ENST00000535915.5:c.1865-39_1865-37del	ENSP00000440520.1:n.1865-39_1865-37del
ENST00000545707.5:c.1606+98_1606+100del	ENSP00000437639.1:n.1606+98_1606+100del
ENST00000557933.5:c.1988-39_1988-37del	ENSP00000453557.1:n.1988-39_1988-37del
ENST00000558013.5:c.1988-39_1988-37del	ENSP00000453346.1:n.1988-39_1988-37del
ENST00000558518.5:c.1988-39_1988-37del	ENSP00000454071.1:n.1988-39_1988-37del
ENST00000559340.1:c.569-39_569-37del
NM_000527.4:c.1988-39_1988-37del , LRG_274t1:c.1988-39_1988-37del	NP_000518.1:n.1988-39_1988-37del
NM_001195798.1:c.1988-39_1988-37del	NP_001182727.1:n.1988-39_1988-37del
NM_001195799.1:c.1865-39_1865-37del	NP_001182728.1:n.1865-39_1865-37del
NM_001195800.1:c.1484-39_1484-37del	NP_001182729.1:n.1484-39_1484-37del
NM_001195803.1:c.1606+98_1606+100del	NP_001182732.1:n.1606+98_1606+100del
XM_011528010.1:c.1988-39_1988-37del	XP_011526312.1:n.1988-39_1988-37del
XM_011528011.1:c.1607-39_1607-37del	XP_011526313.1:n.1607-39_1607-37del
XR_244074.2:n.1998-39_1998-37del
XM_011528010.2:c.1988-39_1988-37del	XP_011526312.1:n.1988-39_1988-37del
XR_001753685.2:n.2105-39_2105-37del
XR_001753686.2:n.1965-39_1965-37del
NM_000527.5:c.1988-39_1988-37del MANE Select	NP_000518.1:n.1988-39_1988-37del
NM_001195798.2:c.1988-39_1988-37del	NP_001182727.1:n.1988-39_1988-37del
NM_001195799.2:c.1865-39_1865-37del	NP_001182728.1:n.1865-39_1865-37del
NM_001195800.2:c.1484-39_1484-37del	NP_001182729.1:n.1484-39_1484-37del
NM_001195803.2:c.1606+98_1606+100del	NP_001182732.1:n.1606+98_1606+100del