Canonical Allele Identifier: CA632115405

Gene: LDLR

Linked Data

• dbSNP Id: rs1049070389
• gnomAD v2: 19-11230672-AACAG-A
• gnomAD v3: 19-11119996-AACAG-A
• gnomAD v4: 19-11119996-AACAG-A
• MyVariant Identifiers: chr19:g.11230673_11230676del (hg19) ; chr19:g.11119997_11120000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120000_11120003del , CM000681.2:g.11120000_11120003del	GRCh38
NC_000019.9:g.11230676_11230679del , CM000681.1:g.11230676_11230679del	GRCh37
NC_000019.8:g.11091676_11091679del	NCBI36
NG_009060.1:g.35620_35623del , LRG_274:g.35620_35623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-92_2104-89del	ENSP00000252444.6:n.2104-92_2104-89del
ENST00000559340.2:c.1706-92_1706-89del	ENSP00000453696.2:n.1706-92_1706-89del
ENST00000560467.2:c.1726-92_1726-89del	ENSP00000453513.2:n.1726-92_1726-89del
ENST00000558518.6:c.1846-92_1846-89del MANE Select	ENSP00000454071.1:n.1846-92_1846-89del
ENST00000252444.9:c.2100-92_2100-89del
ENST00000455727.6:c.1342-92_1342-89del	ENSP00000397829.2:n.1342-92_1342-89del
ENST00000535915.5:c.1723-92_1723-89del	ENSP00000440520.1:n.1723-92_1723-89del
ENST00000545707.5:c.1465-92_1465-89del	ENSP00000437639.1:n.1465-92_1465-89del
ENST00000557933.5:c.1846-92_1846-89del	ENSP00000453557.1:n.1846-92_1846-89del
ENST00000558013.5:c.1846-92_1846-89del	ENSP00000453346.1:n.1846-92_1846-89del
ENST00000558518.5:c.1846-92_1846-89del	ENSP00000454071.1:n.1846-92_1846-89del
ENST00000559340.1:c.427-92_427-89del
NM_000527.4:c.1846-92_1846-89del , LRG_274t1:c.1846-92_1846-89del	NP_000518.1:n.1846-92_1846-89del
NM_001195798.1:c.1846-92_1846-89del	NP_001182727.1:n.1846-92_1846-89del
NM_001195799.1:c.1723-92_1723-89del	NP_001182728.1:n.1723-92_1723-89del
NM_001195800.1:c.1342-92_1342-89del	NP_001182729.1:n.1342-92_1342-89del
NM_001195803.1:c.1465-92_1465-89del	NP_001182732.1:n.1465-92_1465-89del
XM_011528010.1:c.1846-92_1846-89del	XP_011526312.1:n.1846-92_1846-89del
XM_011528011.1:c.1465-92_1465-89del	XP_011526313.1:n.1465-92_1465-89del
XR_244074.2:n.1856-92_1856-89del
XM_011528010.2:c.1846-92_1846-89del	XP_011526312.1:n.1846-92_1846-89del
XR_001753685.2:n.1963-92_1963-89del
XR_001753686.2:n.1823-92_1823-89del
NM_000527.5:c.1846-92_1846-89del MANE Select	NP_000518.1:n.1846-92_1846-89del
NM_001195798.2:c.1846-92_1846-89del	NP_001182727.1:n.1846-92_1846-89del
NM_001195799.2:c.1723-92_1723-89del	NP_001182728.1:n.1723-92_1723-89del
NM_001195800.2:c.1342-92_1342-89del	NP_001182729.1:n.1342-92_1342-89del
NM_001195803.2:c.1465-92_1465-89del	NP_001182732.1:n.1465-92_1465-89del