Canonical Allele Identifier: CA783247586

Gene: LDLR

Linked Data

• dbSNP Id: rs1392537563
• gnomAD v3: 19-11120000-GACAA-G
• gnomAD v4: 19-11120000-GACAA-G
• MyVariant Identifiers: chr19:g.11230677_11230680del (hg19) ; chr19:g.11120001_11120004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120006_11120009del , CM000681.2:g.11120006_11120009del	GRCh38
NC_000019.9:g.11230682_11230685del , CM000681.1:g.11230682_11230685del	GRCh37
NC_000019.8:g.11091682_11091685del	NCBI36
NG_009060.1:g.35626_35629del , LRG_274:g.35626_35629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-86_2104-83del	ENSP00000252444.6:n.2104-86_2104-83del
ENST00000559340.2:c.1706-86_1706-83del	ENSP00000453696.2:n.1706-86_1706-83del
ENST00000560467.2:c.1726-86_1726-83del	ENSP00000453513.2:n.1726-86_1726-83del
ENST00000558518.6:c.1846-86_1846-83del MANE Select	ENSP00000454071.1:n.1846-86_1846-83del
ENST00000252444.9:c.2100-86_2100-83del
ENST00000455727.6:c.1342-86_1342-83del	ENSP00000397829.2:n.1342-86_1342-83del
ENST00000535915.5:c.1723-86_1723-83del	ENSP00000440520.1:n.1723-86_1723-83del
ENST00000545707.5:c.1465-86_1465-83del	ENSP00000437639.1:n.1465-86_1465-83del
ENST00000557933.5:c.1846-86_1846-83del	ENSP00000453557.1:n.1846-86_1846-83del
ENST00000558013.5:c.1846-86_1846-83del	ENSP00000453346.1:n.1846-86_1846-83del
ENST00000558518.5:c.1846-86_1846-83del	ENSP00000454071.1:n.1846-86_1846-83del
ENST00000559340.1:c.427-86_427-83del
NM_000527.4:c.1846-86_1846-83del , LRG_274t1:c.1846-86_1846-83del	NP_000518.1:n.1846-86_1846-83del
NM_001195798.1:c.1846-86_1846-83del	NP_001182727.1:n.1846-86_1846-83del
NM_001195799.1:c.1723-86_1723-83del	NP_001182728.1:n.1723-86_1723-83del
NM_001195800.1:c.1342-86_1342-83del	NP_001182729.1:n.1342-86_1342-83del
NM_001195803.1:c.1465-86_1465-83del	NP_001182732.1:n.1465-86_1465-83del
XM_011528010.1:c.1846-86_1846-83del	XP_011526312.1:n.1846-86_1846-83del
XM_011528011.1:c.1465-86_1465-83del	XP_011526313.1:n.1465-86_1465-83del
XR_244074.2:n.1856-86_1856-83del
XM_011528010.2:c.1846-86_1846-83del	XP_011526312.1:n.1846-86_1846-83del
XR_001753685.2:n.1963-86_1963-83del
XR_001753686.2:n.1823-86_1823-83del
NM_000527.5:c.1846-86_1846-83del MANE Select	NP_000518.1:n.1846-86_1846-83del
NM_001195798.2:c.1846-86_1846-83del	NP_001182727.1:n.1846-86_1846-83del
NM_001195799.2:c.1723-86_1723-83del	NP_001182728.1:n.1723-86_1723-83del
NM_001195800.2:c.1342-86_1342-83del	NP_001182729.1:n.1342-86_1342-83del
NM_001195803.2:c.1465-86_1465-83del	NP_001182732.1:n.1465-86_1465-83del