Canonical Allele Identifier: CA2322775482

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120270_11120273delinsACCT , CM000681.2:g.11120270_11120273delinsACCT	GRCh38
NC_000019.9:g.11230946_11230949delinsACCT , CM000681.1:g.11230946_11230949delinsACCT	GRCh37
NC_000019.8:g.11091946_11091949delinsACCT	NCBI36
NG_009060.1:g.35890_35893delinsACCT , LRG_274:g.35890_35893delinsACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2245+37_2245+40delinsACCT	ENSP00000252444.6:n.2245+37_2245+40delins...
ENST00000559340.2:c.*56+37_*56+40delinsACCT	ENSP00000453696.2:n.*56+37_*56+40delinsAC...
ENST00000560467.2:c.1867+37_1867+40delinsACCT	ENSP00000453513.2:n.1867+37_1867+40delins...
ENST00000558518.6:c.1987+37_1987+40delinsACCT MANE Select	ENSP00000454071.1:n.1987+37_1987+40delins...
ENST00000252444.9:c.2241+37_2241+40delinsACCT
ENST00000455727.6:c.1483+37_1483+40delinsACCT	ENSP00000397829.2:n.1483+37_1483+40delins...
ENST00000535915.5:c.1864+37_1864+40delinsACCT	ENSP00000440520.1:n.1864+37_1864+40delins...
ENST00000545707.5:c.1606+37_1606+40delinsACCT	ENSP00000437639.1:n.1606+37_1606+40delins...
ENST00000557933.5:c.1987+37_1987+40delinsACCT	ENSP00000453557.1:n.1987+37_1987+40delins...
ENST00000558013.5:c.1987+37_1987+40delinsACCT	ENSP00000453346.1:n.1987+37_1987+40delins...
ENST00000558518.5:c.1987+37_1987+40delinsACCT	ENSP00000454071.1:n.1987+37_1987+40delins...
ENST00000559340.1:c.568+37_568+40delinsACCT
NM_000527.4:c.1987+37_1987+40delinsACCT , LRG_274t1:c.1987+37_1987+40delinsACCT	NP_000518.1:n.1987+37_1987+40delinsACCT
NM_001195798.1:c.1987+37_1987+40delinsACCT	NP_001182727.1:n.1987+37_1987+40delinsACC...
NM_001195799.1:c.1864+37_1864+40delinsACCT	NP_001182728.1:n.1864+37_1864+40delinsACC...
NM_001195800.1:c.1483+37_1483+40delinsACCT	NP_001182729.1:n.1483+37_1483+40delinsACC...
NM_001195803.1:c.1606+37_1606+40delinsACCT	NP_001182732.1:n.1606+37_1606+40delinsACC...
XM_011528010.1:c.1987+37_1987+40delinsACCT	XP_011526312.1:n.1987+37_1987+40delinsACC...
XM_011528011.1:c.1606+37_1606+40delinsACCT	XP_011526313.1:n.1606+37_1606+40delinsACC...
XR_244074.2:n.1997+37_1997+40delinsACCT
XM_011528010.2:c.1987+37_1987+40delinsACCT	XP_011526312.1:n.1987+37_1987+40delinsACC...
XR_001753685.2:n.2104+37_2104+40delinsACCT
XR_001753686.2:n.1964+37_1964+40delinsACCT
NM_000527.5:c.1987+37_1987+40delinsACCT MANE Select	NP_000518.1:n.1987+37_1987+40delinsACCT
NM_001195798.2:c.1987+37_1987+40delinsACCT	NP_001182727.1:n.1987+37_1987+40delinsACC...
NM_001195799.2:c.1864+37_1864+40delinsACCT	NP_001182728.1:n.1864+37_1864+40delinsACC...
NM_001195800.2:c.1483+37_1483+40delinsACCT	NP_001182729.1:n.1483+37_1483+40delinsACC...
NM_001195803.2:c.1606+37_1606+40delinsACCT	NP_001182732.1:n.1606+37_1606+40delinsACC...