Canonical Allele Identifier: CA2582475490

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120343-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120345_11120346del , CM000681.2:g.11120345_11120346del	GRCh38
NC_000019.9:g.11231021_11231022del , CM000681.1:g.11231021_11231022del	GRCh37
NC_000019.8:g.11092021_11092022del	NCBI36
NG_009060.1:g.35965_35966del , LRG_274:g.35965_35966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2246-25_2246-24del	ENSP00000252444.6:n.2246-25_2246-24del
ENST00000559340.2:c.*57-25_*57-24del	ENSP00000453696.2:n.*57-25_*57-24del
ENST00000560467.2:c.1868-25_1868-24del	ENSP00000453513.2:n.1868-25_1868-24del
ENST00000558518.6:c.1988-25_1988-24del MANE Select	ENSP00000454071.1:n.1988-25_1988-24del
ENST00000252444.9:c.2242-25_2242-24del
ENST00000455727.6:c.1484-25_1484-24del	ENSP00000397829.2:n.1484-25_1484-24del
ENST00000535915.5:c.1865-25_1865-24del	ENSP00000440520.1:n.1865-25_1865-24del
ENST00000545707.5:c.1606+112_1606+113del	ENSP00000437639.1:n.1606+112_1606+113del
ENST00000557933.5:c.1988-25_1988-24del	ENSP00000453557.1:n.1988-25_1988-24del
ENST00000558013.5:c.1988-25_1988-24del	ENSP00000453346.1:n.1988-25_1988-24del
ENST00000558518.5:c.1988-25_1988-24del	ENSP00000454071.1:n.1988-25_1988-24del
ENST00000559340.1:c.569-25_569-24del
NM_000527.4:c.1988-25_1988-24del , LRG_274t1:c.1988-25_1988-24del	NP_000518.1:n.1988-25_1988-24del
NM_001195798.1:c.1988-25_1988-24del	NP_001182727.1:n.1988-25_1988-24del
NM_001195799.1:c.1865-25_1865-24del	NP_001182728.1:n.1865-25_1865-24del
NM_001195800.1:c.1484-25_1484-24del	NP_001182729.1:n.1484-25_1484-24del
NM_001195803.1:c.1606+112_1606+113del	NP_001182732.1:n.1606+112_1606+113del
XM_011528010.1:c.1988-25_1988-24del	XP_011526312.1:n.1988-25_1988-24del
XM_011528011.1:c.1607-25_1607-24del	XP_011526313.1:n.1607-25_1607-24del
XR_244074.2:n.1998-25_1998-24del
XM_011528010.2:c.1988-25_1988-24del	XP_011526312.1:n.1988-25_1988-24del
XR_001753685.2:n.2105-25_2105-24del
XR_001753686.2:n.1965-25_1965-24del
NM_000527.5:c.1988-25_1988-24del MANE Select	NP_000518.1:n.1988-25_1988-24del
NM_001195798.2:c.1988-25_1988-24del	NP_001182727.1:n.1988-25_1988-24del
NM_001195799.2:c.1865-25_1865-24del	NP_001182728.1:n.1865-25_1865-24del
NM_001195800.2:c.1484-25_1484-24del	NP_001182729.1:n.1484-25_1484-24del
NM_001195803.2:c.1606+112_1606+113del	NP_001182732.1:n.1606+112_1606+113del