Canonical Allele Identifier: CA305302585

Gene: LDLR

Linked Data

• dbSNP Id: rs1049070389
• gnomAD v2: 19-11230672-A-AACAG
• gnomAD v3: 19-11119996-A-AACAG
• gnomAD v4: 19-11119996-A-AACAG
• MyVariant Identifiers: chr19:g.11230676_11230677insACAG (hg19) ; chr19:g.11230672_11230673insACAG (hg19) ; chr19:g.11120000_11120001insACAG (hg38) ; chr19:g.11119996_11119997insACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120000_11120003dup , CM000681.2:g.11120000_11120003dup	GRCh38
NC_000019.9:g.11230676_11230679dup , CM000681.1:g.11230676_11230679dup	GRCh37
NC_000019.8:g.11091676_11091679dup	NCBI36
NG_009060.1:g.35620_35623dup , LRG_274:g.35620_35623dup

Transcript Alleles

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