Canonical Allele Identifier: CA2582474897

Gene: LDLR

Linked Data

• gnomAD v4: 19-11116185-A-ATGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116186_11116187insGTTT , CM000681.2:g.11116186_11116187insGTTT	GRCh38
NC_000019.9:g.11226862_11226863insGTTT , CM000681.1:g.11226862_11226863insGTTT	GRCh37
NC_000019.8:g.11087862_11087863insGTTT	NCBI36
NG_009060.1:g.31806_31807insGTTT , LRG_274:g.31806_31807insGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1937_1938insGTTT	ENSP00000252444.6:p.Ile646MetfsTer21
ENST00000559340.2:c.1679_1680insGTTT	ENSP00000453696.2:p.Ile560MetfsTer?
ENST00000560467.2:c.1559_1560insGTTT	ENSP00000453513.2:p.Ile520MetfsTer21
ENST00000558518.6:c.1679_1680insGTTT MANE Select	ENSP00000454071.1:p.Ile560MetfsTer21
ENST00000252444.9:c.1933_1934insGTTT
ENST00000455727.6:c.1175_1176insGTTT	ENSP00000397829.2:p.Ile392MetfsTer21
ENST00000535915.5:c.1556_1557insGTTT	ENSP00000440520.1:p.Ile519MetfsTer21
ENST00000545707.5:c.1298_1299insGTTT	ENSP00000437639.1:p.Ile433MetfsTer21
ENST00000557933.5:c.1679_1680insGTTT	ENSP00000453557.1:p.Ile560MetfsTer21
ENST00000558013.5:c.1679_1680insGTTT	ENSP00000453346.1:p.Ile560MetfsTer21
ENST00000558518.5:c.1679_1680insGTTT	ENSP00000454071.1:p.Ile560MetfsTer21
ENST00000559340.1:c.400_401insGTTT
NM_000527.4:c.1679_1680insGTTT , LRG_274t1:c.1679_1680insGTTT	NP_000518.1:p.Ile560MetfsTer21
NM_001195798.1:c.1679_1680insGTTT	NP_001182727.1:p.Ile560MetfsTer21
NM_001195799.1:c.1556_1557insGTTT	NP_001182728.1:p.Ile519MetfsTer21
NM_001195800.1:c.1175_1176insGTTT	NP_001182729.1:p.Ile392MetfsTer21
NM_001195803.1:c.1298_1299insGTTT	NP_001182732.1:p.Ile433MetfsTer21
XM_011528010.1:c.1679_1680insGTTT	XP_011526312.1:p.Ile560MetfsTer21
XM_011528011.1:c.1298_1299insGTTT	XP_011526313.1:p.Ile433MetfsTer21
XR_244074.2:n.1829_1830insGTTT
XM_011528010.2:c.1679_1680insGTTT	XP_011526312.1:p.Ile560MetfsTer21
XR_001753685.2:n.1796_1797insGTTT
XR_001753686.2:n.1796_1797insGTTT
NM_000527.5:c.1679_1680insGTTT MANE Select	NP_000518.1:p.Ile560MetfsTer21
NM_001195798.2:c.1679_1680insGTTT	NP_001182727.1:p.Ile560MetfsTer21
NM_001195799.2:c.1556_1557insGTTT	NP_001182728.1:p.Ile519MetfsTer21
NM_001195800.2:c.1175_1176insGTTT	NP_001182729.1:p.Ile392MetfsTer21
NM_001195803.2:c.1298_1299insGTTT	NP_001182732.1:p.Ile433MetfsTer21