Canonical Allele Identifier: CA2955306931

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120347_11120348insTTT , CM000681.2:g.11120347_11120348insTTT	GRCh38
NC_000019.9:g.11231023_11231024insTTT , CM000681.1:g.11231023_11231024insTTT	GRCh37
NC_000019.8:g.11092023_11092024insTTT	NCBI36
NG_009060.1:g.35967_35968insTTT , LRG_274:g.35967_35968insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2246-23_2246-22insTTT	ENSP00000252444.6:n.2246-23_2246-22insTTT
ENST00000559340.2:c.*57-23_*57-22insTTT	ENSP00000453696.2:n.*57-23_*57-22insTTT
ENST00000560467.2:c.1868-23_1868-22insTTT	ENSP00000453513.2:n.1868-23_1868-22insTTT
ENST00000558518.6:c.1988-23_1988-22insTTT MANE Select	ENSP00000454071.1:n.1988-23_1988-22insTTT
ENST00000252444.9:c.2242-23_2242-22insTTT
ENST00000455727.6:c.1484-23_1484-22insTTT	ENSP00000397829.2:n.1484-23_1484-22insTTT
ENST00000535915.5:c.1865-23_1865-22insTTT	ENSP00000440520.1:n.1865-23_1865-22insTTT
ENST00000545707.5:c.1606+114_1606+115insTTT	ENSP00000437639.1:n.1606+114_1606+115insTTT
ENST00000557933.5:c.1988-23_1988-22insTTT	ENSP00000453557.1:n.1988-23_1988-22insTTT
ENST00000558013.5:c.1988-23_1988-22insTTT	ENSP00000453346.1:n.1988-23_1988-22insTTT
ENST00000558518.5:c.1988-23_1988-22insTTT	ENSP00000454071.1:n.1988-23_1988-22insTTT
ENST00000559340.1:c.569-23_569-22insTTT
NM_000527.4:c.1988-23_1988-22insTTT , LRG_274t1:c.1988-23_1988-22insTTT	NP_000518.1:n.1988-23_1988-22insTTT
NM_001195798.1:c.1988-23_1988-22insTTT	NP_001182727.1:n.1988-23_1988-22insTTT
NM_001195799.1:c.1865-23_1865-22insTTT	NP_001182728.1:n.1865-23_1865-22insTTT
NM_001195800.1:c.1484-23_1484-22insTTT	NP_001182729.1:n.1484-23_1484-22insTTT
NM_001195803.1:c.1606+114_1606+115insTTT	NP_001182732.1:n.1606+114_1606+115insTTT
XM_011528010.1:c.1988-23_1988-22insTTT	XP_011526312.1:n.1988-23_1988-22insTTT
XM_011528011.1:c.1607-23_1607-22insTTT	XP_011526313.1:n.1607-23_1607-22insTTT
XR_244074.2:n.1998-23_1998-22insTTT
XM_011528010.2:c.1988-23_1988-22insTTT	XP_011526312.1:n.1988-23_1988-22insTTT
XR_001753685.2:n.2105-23_2105-22insTTT
XR_001753686.2:n.1965-23_1965-22insTTT
NM_000527.5:c.1988-23_1988-22insTTT MANE Select	NP_000518.1:n.1988-23_1988-22insTTT
NM_001195798.2:c.1988-23_1988-22insTTT	NP_001182727.1:n.1988-23_1988-22insTTT
NM_001195799.2:c.1865-23_1865-22insTTT	NP_001182728.1:n.1865-23_1865-22insTTT
NM_001195800.2:c.1484-23_1484-22insTTT	NP_001182729.1:n.1484-23_1484-22insTTT
NM_001195803.2:c.1606+114_1606+115insTTT	NP_001182732.1:n.1606+114_1606+115insTTT