Canonical Allele Identifier: CA2322771664

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113257_11113259delinsCCT , CM000681.2:g.11113257_11113259delinsCCT	GRCh38
NC_000019.9:g.11223933_11223935delinsCCT , CM000681.1:g.11223933_11223935delinsCCT	GRCh37
NC_000019.8:g.11084933_11084935delinsCCT	NCBI36
NG_009060.1:g.28877_28879delinsCCT , LRG_274:g.28877_28879delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-21_1445-19delinsCCT	ENSP00000252444.6:n.1445-21_1445-19delins...
ENST00000559340.2:c.1187-21_1187-19delinsCCT	ENSP00000453696.2:n.1187-21_1187-19delins...
ENST00000560467.2:c.1067-21_1067-19delinsCCT	ENSP00000453513.2:n.1067-21_1067-19delins...
ENST00000558518.6:c.1187-21_1187-19delinsCCT MANE Select	ENSP00000454071.1:n.1187-21_1187-19delins...
ENST00000252444.9:c.1441-21_1441-19delinsCCT
ENST00000455727.6:c.683-21_683-19delinsCCT	ENSP00000397829.2:n.683-21_683-19delinsCC...
ENST00000535915.5:c.1064-21_1064-19delinsCCT	ENSP00000440520.1:n.1064-21_1064-19delins...
ENST00000545707.5:c.806-21_806-19delinsCCT	ENSP00000437639.1:n.806-21_806-19delinsCC...
ENST00000557933.5:c.1187-21_1187-19delinsCCT	ENSP00000453557.1:n.1187-21_1187-19delins...
ENST00000558013.5:c.1187-21_1187-19delinsCCT	ENSP00000453346.1:n.1187-21_1187-19delins...
ENST00000558518.5:c.1187-21_1187-19delinsCCT	ENSP00000454071.1:n.1187-21_1187-19delins...
ENST00000560173.1:n.186-21_186-19delinsCCT
ENST00000560467.1:c.667-21_667-19delinsCCT
NM_000527.4:c.1187-21_1187-19delinsCCT , LRG_274t1:c.1187-21_1187-19delinsCCT	NP_000518.1:n.1187-21_1187-19delinsCCT
NM_001195798.1:c.1187-21_1187-19delinsCCT	NP_001182727.1:n.1187-21_1187-19delinsCCT...
NM_001195799.1:c.1064-21_1064-19delinsCCT	NP_001182728.1:n.1064-21_1064-19delinsCCT...
NM_001195800.1:c.683-21_683-19delinsCCT	NP_001182729.1:n.683-21_683-19delinsCCT
NM_001195803.1:c.806-21_806-19delinsCCT	NP_001182732.1:n.806-21_806-19delinsCCT
XM_011528010.1:c.1187-21_1187-19delinsCCT	XP_011526312.1:n.1187-21_1187-19delinsCCT...
XM_011528011.1:c.806-21_806-19delinsCCT	XP_011526313.1:n.806-21_806-19delinsCCT
XR_244074.2:n.1337-21_1337-19delinsCCT
XM_011528010.2:c.1187-21_1187-19delinsCCT	XP_011526312.1:n.1187-21_1187-19delinsCCT...
XR_001753685.2:n.1304-21_1304-19delinsCCT
XR_001753686.2:n.1304-21_1304-19delinsCCT
NM_000527.5:c.1187-21_1187-19delinsCCT MANE Select	NP_000518.1:n.1187-21_1187-19delinsCCT
NM_001195798.2:c.1187-21_1187-19delinsCCT	NP_001182727.1:n.1187-21_1187-19delinsCCT...
NM_001195799.2:c.1064-21_1064-19delinsCCT	NP_001182728.1:n.1064-21_1064-19delinsCCT...
NM_001195800.2:c.683-21_683-19delinsCCT	NP_001182729.1:n.683-21_683-19delinsCCT
NM_001195803.2:c.806-21_806-19delinsCCT	NP_001182732.1:n.806-21_806-19delinsCCT