Canonical Allele Identifier: CA505485702

Gene: LDLR

Linked Data

• dbSNP Id: rs1568602912
• gnomAD v2: 19-11223682-T-TTTG
• gnomAD v3: 19-11113006-T-TTTG
• gnomAD v4: 19-11113006-T-TTTG
• MyVariant Identifiers: chr19:g.11223682_11223683insTTG (hg19) ; chr19:g.11113006_11113007insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113008_11113009insGTT , CM000681.2:g.11113008_11113009insGTT	GRCh38
NC_000019.9:g.11223684_11223685insGTT , CM000681.1:g.11223684_11223685insGTT	GRCh37
NC_000019.8:g.11084684_11084685insGTT	NCBI36
NG_009060.1:g.28628_28629insGTT , LRG_274:g.28628_28629insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-270_1445-269insGTT	ENSP00000252444.6:n.1445-270_1445-269insGTT
ENST00000559340.2:c.1187-270_1187-269insGTT	ENSP00000453696.2:n.1187-270_1187-269insGTT
ENST00000560467.2:c.1067-270_1067-269insGTT	ENSP00000453513.2:n.1067-270_1067-269insGTT
ENST00000558518.6:c.1187-270_1187-269insGTT MANE Select	ENSP00000454071.1:n.1187-270_1187-269insGTT
ENST00000252444.9:c.1441-270_1441-269insGTT
ENST00000455727.6:c.683-270_683-269insGTT	ENSP00000397829.2:n.683-270_683-269insGTT
ENST00000535915.5:c.1064-270_1064-269insGTT	ENSP00000440520.1:n.1064-270_1064-269insGTT
ENST00000545707.5:c.806-270_806-269insGTT	ENSP00000437639.1:n.806-270_806-269insGTT
ENST00000557933.5:c.1187-270_1187-269insGTT	ENSP00000453557.1:n.1187-270_1187-269insGTT
ENST00000558013.5:c.1187-270_1187-269insGTT	ENSP00000453346.1:n.1187-270_1187-269insGTT
ENST00000558518.5:c.1187-270_1187-269insGTT	ENSP00000454071.1:n.1187-270_1187-269insGTT
ENST00000560173.1:n.186-270_186-269insGTT
ENST00000560467.1:c.667-270_667-269insGTT
NM_000527.4:c.1187-270_1187-269insGTT , LRG_274t1:c.1187-270_1187-269insGTT	NP_000518.1:n.1187-270_1187-269insGTT
NM_001195798.1:c.1187-270_1187-269insGTT	NP_001182727.1:n.1187-270_1187-269insGTT
NM_001195799.1:c.1064-270_1064-269insGTT	NP_001182728.1:n.1064-270_1064-269insGTT
NM_001195800.1:c.683-270_683-269insGTT	NP_001182729.1:n.683-270_683-269insGTT
NM_001195803.1:c.806-270_806-269insGTT	NP_001182732.1:n.806-270_806-269insGTT
XM_011528010.1:c.1187-270_1187-269insGTT	XP_011526312.1:n.1187-270_1187-269insGTT
XM_011528011.1:c.806-270_806-269insGTT	XP_011526313.1:n.806-270_806-269insGTT
XR_244074.2:n.1337-270_1337-269insGTT
XM_011528010.2:c.1187-270_1187-269insGTT	XP_011526312.1:n.1187-270_1187-269insGTT
XR_001753685.2:n.1304-270_1304-269insGTT
XR_001753686.2:n.1304-270_1304-269insGTT
NM_000527.5:c.1187-270_1187-269insGTT MANE Select	NP_000518.1:n.1187-270_1187-269insGTT
NM_001195798.2:c.1187-270_1187-269insGTT	NP_001182727.1:n.1187-270_1187-269insGTT
NM_001195799.2:c.1064-270_1064-269insGTT	NP_001182728.1:n.1064-270_1064-269insGTT
NM_001195800.2:c.683-270_683-269insGTT	NP_001182729.1:n.683-270_683-269insGTT
NM_001195803.2:c.806-270_806-269insGTT	NP_001182732.1:n.806-270_806-269insGTT