Canonical Allele Identifier: CA2322775304

Gene: LDLR

Linked Data

• dbSNP Id: rs2077521397
• gnomAD v3: 19-11120019-TGTG-T
• gnomAD v4: 19-11120019-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120021_11120023del , CM000681.2:g.11120021_11120023del	GRCh38
NC_000019.9:g.11230697_11230699del , CM000681.1:g.11230697_11230699del	GRCh37
NC_000019.8:g.11091697_11091699del	NCBI36
NG_009060.1:g.35641_35643del , LRG_274:g.35641_35643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-71_2104-69del	ENSP00000252444.6:n.2104-71_2104-69del
ENST00000559340.2:c.1706-71_1706-69del	ENSP00000453696.2:n.1706-71_1706-69del
ENST00000560467.2:c.1726-71_1726-69del	ENSP00000453513.2:n.1726-71_1726-69del
ENST00000558518.6:c.1846-71_1846-69del MANE Select	ENSP00000454071.1:n.1846-71_1846-69del
ENST00000252444.9:c.2100-71_2100-69del
ENST00000455727.6:c.1342-71_1342-69del	ENSP00000397829.2:n.1342-71_1342-69del
ENST00000535915.5:c.1723-71_1723-69del	ENSP00000440520.1:n.1723-71_1723-69del
ENST00000545707.5:c.1465-71_1465-69del	ENSP00000437639.1:n.1465-71_1465-69del
ENST00000557933.5:c.1846-71_1846-69del	ENSP00000453557.1:n.1846-71_1846-69del
ENST00000558013.5:c.1846-71_1846-69del	ENSP00000453346.1:n.1846-71_1846-69del
ENST00000558518.5:c.1846-71_1846-69del	ENSP00000454071.1:n.1846-71_1846-69del
ENST00000559340.1:c.427-71_427-69del
NM_000527.4:c.1846-71_1846-69del , LRG_274t1:c.1846-71_1846-69del	NP_000518.1:n.1846-71_1846-69del
NM_001195798.1:c.1846-71_1846-69del	NP_001182727.1:n.1846-71_1846-69del
NM_001195799.1:c.1723-71_1723-69del	NP_001182728.1:n.1723-71_1723-69del
NM_001195800.1:c.1342-71_1342-69del	NP_001182729.1:n.1342-71_1342-69del
NM_001195803.1:c.1465-71_1465-69del	NP_001182732.1:n.1465-71_1465-69del
XM_011528010.1:c.1846-71_1846-69del	XP_011526312.1:n.1846-71_1846-69del
XM_011528011.1:c.1465-71_1465-69del	XP_011526313.1:n.1465-71_1465-69del
XR_244074.2:n.1856-71_1856-69del
XM_011528010.2:c.1846-71_1846-69del	XP_011526312.1:n.1846-71_1846-69del
XR_001753685.2:n.1963-71_1963-69del
XR_001753686.2:n.1823-71_1823-69del
NM_000527.5:c.1846-71_1846-69del MANE Select	NP_000518.1:n.1846-71_1846-69del
NM_001195798.2:c.1846-71_1846-69del	NP_001182727.1:n.1846-71_1846-69del
NM_001195799.2:c.1723-71_1723-69del	NP_001182728.1:n.1723-71_1723-69del
NM_001195800.2:c.1342-71_1342-69del	NP_001182729.1:n.1342-71_1342-69del
NM_001195803.2:c.1465-71_1465-69del	NP_001182732.1:n.1465-71_1465-69del