Canonical Allele Identifier: CA2322767486

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105463_11105474delinsGTCTTTACGTGT , CM000681.2:g.11105463_11105474delinsGTCTTTACGTGT	GRCh38
NC_000019.9:g.11216139_11216150delinsGTCTTTACGTGT , CM000681.1:g.11216139_11216150delinsGTCTTTACGTGT	GRCh37
NC_000019.8:g.11077139_11077150delinsGTCTTTACGTGT	NCBI36
NG_009060.1:g.21083_21094delinsGTCTTTACGTGT , LRG_274:g.21083_21094delinsGTCTTTACGTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.815_826delinsGTCTTTACGTGT	ENSP00000252444.6:p.Gly272=
ENST00000559340.2:c.557_568delinsGTCTTTACGTGT	ENSP00000453696.2:p.Gly186=
ENST00000560467.2:c.557_568delinsGTCTTTACGTGT	ENSP00000453513.2:p.Gly186=
ENST00000558518.6:c.557_568delinsGTCTTTACGTGT MANE Select	ENSP00000454071.1:p.Gly186=
ENST00000252444.9:c.811_822delinsGTCTTTACGTGT
ENST00000455727.6:c.314-1929_314-1918delinsGTCTTTACGTGT	ENSP00000397829.2:n.314-1929_314-1918deli...
ENST00000535915.5:c.434_445delinsGTCTTTACGTGT	ENSP00000440520.1:p.Gly145=
ENST00000545707.5:c.314-1102_314-1091delinsGTCTTTACGTGT	ENSP00000437639.1:n.314-1102_314-1091deli...
ENST00000557933.5:c.557_568delinsGTCTTTACGTGT	ENSP00000453557.1:p.Gly186=
ENST00000558013.5:c.557_568delinsGTCTTTACGTGT	ENSP00000453346.1:p.Gly186=
ENST00000558518.5:c.557_568delinsGTCTTTACGTGT	ENSP00000454071.1:p.Gly186=
ENST00000560467.1:c.157_168delinsGTCTTTACGTGT
NM_000527.4:c.557_568delinsGTCTTTACGTGT , LRG_274t1:c.557_568delinsGTCTTTACGTGT	NP_000518.1:p.Gly186=
NM_001195798.1:c.557_568delinsGTCTTTACGTGT	NP_001182727.1:p.Gly186=
NM_001195799.1:c.434_445delinsGTCTTTACGTGT	NP_001182728.1:p.Gly145=
NM_001195800.1:c.314-1929_314-1918delinsGTCTTTACGTGT	NP_001182729.1:n.314-1929_314-1918delinsG...
NM_001195803.1:c.314-1102_314-1091delinsGTCTTTACGTGT	NP_001182732.1:n.314-1102_314-1091delinsG...
XM_011528010.1:c.557_568delinsGTCTTTACGTGT	XP_011526312.1:p.Gly186=
XM_011528011.1:c.314-1102_314-1091delinsGTCTTTACGTGT	XP_011526313.1:n.314-1102_314-1091delinsG...
XR_244074.2:n.707_718delinsGTCTTTACGTGT
XM_011528010.2:c.557_568delinsGTCTTTACGTGT	XP_011526312.1:p.Gly186=
XR_001753685.2:n.674_685delinsGTCTTTACGTGT
XR_001753686.2:n.674_685delinsGTCTTTACGTGT
NM_000527.5:c.557_568delinsGTCTTTACGTGT MANE Select	NP_000518.1:p.Gly186=
NM_001195798.2:c.557_568delinsGTCTTTACGTGT	NP_001182727.1:p.Gly186=
NM_001195799.2:c.434_445delinsGTCTTTACGTGT	NP_001182728.1:p.Gly145=
NM_001195800.2:c.314-1929_314-1918delinsGTCTTTACGTGT	NP_001182729.1:n.314-1929_314-1918delinsG...
NM_001195803.2:c.314-1102_314-1091delinsGTCTTTACGTGT	NP_001182732.1:n.314-1102_314-1091delinsG...