Canonical Allele Identifier: CA631766308

Gene: LDLR

Linked Data

• dbSNP Id: rs1219881048
• gnomAD v2: 19-11223663-C-CCTTT
• gnomAD v3: 19-11112987-C-CCTTT
• gnomAD v4: 19-11112987-C-CCTTT
• MyVariant Identifiers: chr19:g.11223664delinsCTTTT (hg19) ; chr19:g.11112988delinsCTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11112987_11112988insCTTT , CM000681.2:g.11112987_11112988insCTTT	GRCh38
NC_000019.9:g.11223663_11223664insCTTT , CM000681.1:g.11223663_11223664insCTTT	GRCh37
NC_000019.8:g.11084663_11084664insCTTT	NCBI36
NG_009060.1:g.28607_28608insCTTT , LRG_274:g.28607_28608insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-291_1445-290insCTTT	ENSP00000252444.6:n.1445-291_1445-290insCTTT
ENST00000559340.2:c.1187-291_1187-290insCTTT	ENSP00000453696.2:n.1187-291_1187-290insCTTT
ENST00000560467.2:c.1067-291_1067-290insCTTT	ENSP00000453513.2:n.1067-291_1067-290insCTTT
ENST00000558518.6:c.1187-291_1187-290insCTTT MANE Select	ENSP00000454071.1:n.1187-291_1187-290insCTTT
ENST00000252444.9:c.1441-291_1441-290insCTTT
ENST00000455727.6:c.683-291_683-290insCTTT	ENSP00000397829.2:n.683-291_683-290insCTTT
ENST00000535915.5:c.1064-291_1064-290insCTTT	ENSP00000440520.1:n.1064-291_1064-290insCTTT
ENST00000545707.5:c.806-291_806-290insCTTT	ENSP00000437639.1:n.806-291_806-290insCTTT
ENST00000557933.5:c.1187-291_1187-290insCTTT	ENSP00000453557.1:n.1187-291_1187-290insCTTT
ENST00000558013.5:c.1187-291_1187-290insCTTT	ENSP00000453346.1:n.1187-291_1187-290insCTTT
ENST00000558518.5:c.1187-291_1187-290insCTTT	ENSP00000454071.1:n.1187-291_1187-290insCTTT
ENST00000560173.1:n.186-291_186-290insCTTT
ENST00000560467.1:c.667-291_667-290insCTTT
NM_000527.4:c.1187-291_1187-290insCTTT , LRG_274t1:c.1187-291_1187-290insCTTT	NP_000518.1:n.1187-291_1187-290insCTTT
NM_001195798.1:c.1187-291_1187-290insCTTT	NP_001182727.1:n.1187-291_1187-290insCTTT
NM_001195799.1:c.1064-291_1064-290insCTTT	NP_001182728.1:n.1064-291_1064-290insCTTT
NM_001195800.1:c.683-291_683-290insCTTT	NP_001182729.1:n.683-291_683-290insCTTT
NM_001195803.1:c.806-291_806-290insCTTT	NP_001182732.1:n.806-291_806-290insCTTT
XM_011528010.1:c.1187-291_1187-290insCTTT	XP_011526312.1:n.1187-291_1187-290insCTTT
XM_011528011.1:c.806-291_806-290insCTTT	XP_011526313.1:n.806-291_806-290insCTTT
XR_244074.2:n.1337-291_1337-290insCTTT
XM_011528010.2:c.1187-291_1187-290insCTTT	XP_011526312.1:n.1187-291_1187-290insCTTT
XR_001753685.2:n.1304-291_1304-290insCTTT
XR_001753686.2:n.1304-291_1304-290insCTTT
NM_000527.5:c.1187-291_1187-290insCTTT MANE Select	NP_000518.1:n.1187-291_1187-290insCTTT
NM_001195798.2:c.1187-291_1187-290insCTTT	NP_001182727.1:n.1187-291_1187-290insCTTT
NM_001195799.2:c.1064-291_1064-290insCTTT	NP_001182728.1:n.1064-291_1064-290insCTTT
NM_001195800.2:c.683-291_683-290insCTTT	NP_001182729.1:n.683-291_683-290insCTTT
NM_001195803.2:c.806-291_806-290insCTTT	NP_001182732.1:n.806-291_806-290insCTTT