Canonical Allele Identifier: CA2582474655

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113780-TGAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113781_11113785del , CM000681.2:g.11113781_11113785del	GRCh38
NC_000019.9:g.11224457_11224461del , CM000681.1:g.11224457_11224461del	GRCh37
NC_000019.8:g.11085457_11085461del	NCBI36
NG_009060.1:g.29401_29405del , LRG_274:g.29401_29405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+19_1844+23del	ENSP00000252444.6:n.1844+19_1844+23del
ENST00000559340.2:c.1586+19_1586+23del	ENSP00000453696.2:n.1586+19_1586+23del
ENST00000560467.2:c.1466+19_1466+23del	ENSP00000453513.2:n.1466+19_1466+23del
ENST00000558518.6:c.1586+19_1586+23del MANE Select	ENSP00000454071.1:n.1586+19_1586+23del
ENST00000252444.9:c.1840+19_1840+23del
ENST00000455727.6:c.1082+19_1082+23del	ENSP00000397829.2:n.1082+19_1082+23del
ENST00000535915.5:c.1463+19_1463+23del	ENSP00000440520.1:n.1463+19_1463+23del
ENST00000545707.5:c.1205+19_1205+23del	ENSP00000437639.1:n.1205+19_1205+23del
ENST00000557933.5:c.1586+19_1586+23del	ENSP00000453557.1:n.1586+19_1586+23del
ENST00000558013.5:c.1586+19_1586+23del	ENSP00000453346.1:n.1586+19_1586+23del
ENST00000558518.5:c.1586+19_1586+23del	ENSP00000454071.1:n.1586+19_1586+23del
ENST00000559340.1:c.307+19_307+23del
NM_000527.4:c.1586+19_1586+23del , LRG_274t1:c.1586+19_1586+23del	NP_000518.1:n.1586+19_1586+23del
NM_001195798.1:c.1586+19_1586+23del	NP_001182727.1:n.1586+19_1586+23del
NM_001195799.1:c.1463+19_1463+23del	NP_001182728.1:n.1463+19_1463+23del
NM_001195800.1:c.1082+19_1082+23del	NP_001182729.1:n.1082+19_1082+23del
NM_001195803.1:c.1205+19_1205+23del	NP_001182732.1:n.1205+19_1205+23del
XM_011528010.1:c.1586+19_1586+23del	XP_011526312.1:n.1586+19_1586+23del
XM_011528011.1:c.1205+19_1205+23del	XP_011526313.1:n.1205+19_1205+23del
XR_244074.2:n.1736+19_1736+23del
XM_011528010.2:c.1586+19_1586+23del	XP_011526312.1:n.1586+19_1586+23del
XR_001753685.2:n.1703+19_1703+23del
XR_001753686.2:n.1703+19_1703+23del
NM_000527.5:c.1586+19_1586+23del MANE Select	NP_000518.1:n.1586+19_1586+23del
NM_001195798.2:c.1586+19_1586+23del	NP_001182727.1:n.1586+19_1586+23del
NM_001195799.2:c.1463+19_1463+23del	NP_001182728.1:n.1463+19_1463+23del
NM_001195800.2:c.1082+19_1082+23del	NP_001182729.1:n.1082+19_1082+23del
NM_001195803.2:c.1205+19_1205+23del	NP_001182732.1:n.1205+19_1205+23del