Canonical Allele Identifier: CA2497030099

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120436dup , CM000681.2:g.11120436dup	GRCh38
NC_000019.9:g.11231112dup , CM000681.1:g.11231112dup	GRCh37
NC_000019.8:g.11092112dup	NCBI36
NG_009060.1:g.36056dup , LRG_274:g.36056dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2312dup	ENSP00000252444.6:p.Gln772AlafsTer?
ENST00000559340.2:c.*123dup	ENSP00000453696.2:n.*123dup
ENST00000560467.2:c.1934dup	ENSP00000453513.2:p.Gln646AlafsTer?
ENST00000558518.6:c.2054dup MANE Select	ENSP00000454071.1:p.Gln686AlafsTer?
ENST00000252444.9:c.2308dup
ENST00000455727.6:c.1550dup	ENSP00000397829.2:p.Gln518AlafsTer?
ENST00000535915.5:c.1931dup	ENSP00000440520.1:p.Gln645AlafsTer?
ENST00000545707.5:c.1606+203dup	ENSP00000437639.1:n.1606+203dup
ENST00000557933.5:c.2054dup	ENSP00000453557.1:p.Gln686AlafsTer?
ENST00000558013.5:c.2054dup	ENSP00000453346.1:p.Gln686AlafsTer?
ENST00000558518.5:c.2054dup	ENSP00000454071.1:p.Gln686AlafsTer?
NM_000527.4:c.2054dup , LRG_274t1:c.2054dup	NP_000518.1:p.Gln686AlafsTer?
NM_001195798.1:c.2054dup	NP_001182727.1:p.Gln686AlafsTer?
NM_001195799.1:c.1931dup	NP_001182728.1:p.Gln645AlafsTer?
NM_001195800.1:c.1550dup	NP_001182729.1:p.Gln518AlafsTer?
NM_001195803.1:c.1606+203dup	NP_001182732.1:n.1606+203dup
XM_011528010.1:c.2054dup	XP_011526312.1:p.Gln686AlafsTer?
XM_011528011.1:c.1673dup	XP_011526313.1:p.Gln559AlafsTer?
XR_244074.2:n.2064dup
XM_011528010.2:c.2054dup	XP_011526312.1:p.Gln686AlafsTer?
XR_001753685.2:n.2171dup
XR_001753686.2:n.2031dup
NM_000527.5:c.2054dup MANE Select	NP_000518.1:p.Gln686AlafsTer?
NM_001195798.2:c.2054dup	NP_001182727.1:p.Gln686AlafsTer?
NM_001195799.2:c.1931dup	NP_001182728.1:p.Gln645AlafsTer?
NM_001195800.2:c.1550dup	NP_001182729.1:p.Gln518AlafsTer?
NM_001195803.2:c.1606+203dup	NP_001182732.1:n.1606+203dup