Canonical Allele Identifier: CA2497030059

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113284_11113286delinsC , CM000681.2:g.11113284_11113286delinsC	GRCh38
NC_000019.9:g.11223960_11223962delinsC , CM000681.1:g.11223960_11223962delinsC	GRCh37
NC_000019.8:g.11084960_11084962delinsC	NCBI36
NG_009060.1:g.28904_28906delinsC , LRG_274:g.28904_28906delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1451_1453delinsC	ENSP00000252444.6:p.Ile484ThrfsTer?
ENST00000559340.2:c.1193_1195delinsC	ENSP00000453696.2:p.Ile398ThrfsTer?
ENST00000560467.2:c.1073_1075delinsC	ENSP00000453513.2:p.Ile358ThrfsTer?
ENST00000558518.6:c.1193_1195delinsC MANE Select	ENSP00000454071.1:p.Ile398ThrfsTer?
ENST00000252444.9:c.1447_1449delinsC
ENST00000455727.6:c.689_691delinsC	ENSP00000397829.2:p.Ile230ThrfsTer?
ENST00000535915.5:c.1070_1072delinsC	ENSP00000440520.1:p.Ile357ThrfsTer?
ENST00000545707.5:c.812_814delinsC	ENSP00000437639.1:p.Ile271ThrfsTer?
ENST00000557933.5:c.1193_1195delinsC	ENSP00000453557.1:p.Ile398ThrfsTer?
ENST00000558013.5:c.1193_1195delinsC	ENSP00000453346.1:p.Ile398ThrfsTer?
ENST00000558518.5:c.1193_1195delinsC	ENSP00000454071.1:p.Ile398ThrfsTer?
ENST00000560173.1:n.192_194delinsC
ENST00000560467.1:c.673_675delinsC
NM_000527.4:c.1193_1195delinsC , LRG_274t1:c.1193_1195delinsC	NP_000518.1:p.Ile398ThrfsTer?
NM_001195798.1:c.1193_1195delinsC	NP_001182727.1:p.Ile398ThrfsTer?
NM_001195799.1:c.1070_1072delinsC	NP_001182728.1:p.Ile357ThrfsTer?
NM_001195800.1:c.689_691delinsC	NP_001182729.1:p.Ile230ThrfsTer?
NM_001195803.1:c.812_814delinsC	NP_001182732.1:p.Ile271ThrfsTer?
XM_011528010.1:c.1193_1195delinsC	XP_011526312.1:p.Ile398ThrfsTer?
XM_011528011.1:c.812_814delinsC	XP_011526313.1:p.Ile271ThrfsTer?
XR_244074.2:n.1343_1345delinsC
XM_011528010.2:c.1193_1195delinsC	XP_011526312.1:p.Ile398ThrfsTer?
XR_001753685.2:n.1310_1312delinsC
XR_001753686.2:n.1310_1312delinsC
NM_000527.5:c.1193_1195delinsC MANE Select	NP_000518.1:p.Ile398ThrfsTer?
NM_001195798.2:c.1193_1195delinsC	NP_001182727.1:p.Ile398ThrfsTer?
NM_001195799.2:c.1070_1072delinsC	NP_001182728.1:p.Ile357ThrfsTer?
NM_001195800.2:c.689_691delinsC	NP_001182729.1:p.Ile230ThrfsTer?
NM_001195803.2:c.812_814delinsC	NP_001182732.1:p.Ile271ThrfsTer?