Canonical Allele Identifier: CA631767970

Gene: LDLR

Linked Data

• dbSNP Id: rs1220703730
• gnomAD v2: 19-11230518-G-GAC
• gnomAD v3: 19-11119842-G-GAC
• gnomAD v4: 19-11119842-G-GAC
• MyVariant Identifiers: chr19:g.11230518_11230519insAC (hg19) ; chr19:g.11119842_11119843insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119842_11119843insAC , CM000681.2:g.11119842_11119843insAC	GRCh38
NC_000019.9:g.11230518_11230519insAC , CM000681.1:g.11230518_11230519insAC	GRCh37
NC_000019.8:g.11091518_11091519insAC	NCBI36
NG_009060.1:g.35462_35463insAC , LRG_274:g.35462_35463insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-250_2104-249insAC	ENSP00000252444.6:n.2104-250_2104-249insAC
ENST00000559340.2:c.1706-250_1706-249insAC	ENSP00000453696.2:n.1706-250_1706-249insAC
ENST00000560467.2:c.1726-250_1726-249insAC	ENSP00000453513.2:n.1726-250_1726-249insAC
ENST00000558518.6:c.1846-250_1846-249insAC MANE Select	ENSP00000454071.1:n.1846-250_1846-249insAC
ENST00000252444.9:c.2100-250_2100-249insAC
ENST00000455727.6:c.1342-250_1342-249insAC	ENSP00000397829.2:n.1342-250_1342-249insAC
ENST00000535915.5:c.1723-250_1723-249insAC	ENSP00000440520.1:n.1723-250_1723-249insAC
ENST00000545707.5:c.1465-250_1465-249insAC	ENSP00000437639.1:n.1465-250_1465-249insAC
ENST00000557933.5:c.1846-250_1846-249insAC	ENSP00000453557.1:n.1846-250_1846-249insAC
ENST00000558013.5:c.1846-250_1846-249insAC	ENSP00000453346.1:n.1846-250_1846-249insAC
ENST00000558518.5:c.1846-250_1846-249insAC	ENSP00000454071.1:n.1846-250_1846-249insAC
ENST00000559340.1:c.427-250_427-249insAC
NM_000527.4:c.1846-250_1846-249insAC , LRG_274t1:c.1846-250_1846-249insAC	NP_000518.1:n.1846-250_1846-249insAC
NM_001195798.1:c.1846-250_1846-249insAC	NP_001182727.1:n.1846-250_1846-249insAC
NM_001195799.1:c.1723-250_1723-249insAC	NP_001182728.1:n.1723-250_1723-249insAC
NM_001195800.1:c.1342-250_1342-249insAC	NP_001182729.1:n.1342-250_1342-249insAC
NM_001195803.1:c.1465-250_1465-249insAC	NP_001182732.1:n.1465-250_1465-249insAC
XM_011528010.1:c.1846-250_1846-249insAC	XP_011526312.1:n.1846-250_1846-249insAC
XM_011528011.1:c.1465-250_1465-249insAC	XP_011526313.1:n.1465-250_1465-249insAC
XR_244074.2:n.1856-250_1856-249insAC
XM_011528010.2:c.1846-250_1846-249insAC	XP_011526312.1:n.1846-250_1846-249insAC
XR_001753685.2:n.1963-250_1963-249insAC
XR_001753686.2:n.1823-250_1823-249insAC
NM_000527.5:c.1846-250_1846-249insAC MANE Select	NP_000518.1:n.1846-250_1846-249insAC
NM_001195798.2:c.1846-250_1846-249insAC	NP_001182727.1:n.1846-250_1846-249insAC
NM_001195799.2:c.1723-250_1723-249insAC	NP_001182728.1:n.1723-250_1723-249insAC
NM_001195800.2:c.1342-250_1342-249insAC	NP_001182729.1:n.1342-250_1342-249insAC
NM_001195803.2:c.1465-250_1465-249insAC	NP_001182732.1:n.1465-250_1465-249insAC