Canonical Allele Identifier: CA993522052

Gene: LDLR

Linked Data

• dbSNP Id: rs35951147
• gnomAD v3: 19-11122977-ATTTT-A
• gnomAD v4: 19-11122977-ATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11122991_11122994del , CM000681.2:g.11122991_11122994del	GRCh38
NC_000019.9:g.11233667_11233670del , CM000681.1:g.11233667_11233670del	GRCh37
NC_000019.8:g.11094667_11094670del	NCBI36
NG_009060.1:g.38611_38614del , LRG_274:g.38611_38614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2399-183_2399-180del	ENSP00000252444.6:n.2399-183_2399-180del
ENST00000559340.2:c.*210-183_*210-180del	ENSP00000453696.2:n.*210-183_*210-180del
ENST00000560467.2:c.2021-183_2021-180del	ENSP00000453513.2:n.2021-183_2021-180del
ENST00000558518.6:c.2141-183_2141-180del MANE Select	ENSP00000454071.1:n.2141-183_2141-180del
ENST00000252444.9:c.2395-183_2395-180del
ENST00000455727.6:c.1637-183_1637-180del	ENSP00000397829.2:n.1637-183_1637-180del
ENST00000535915.5:c.2018-183_2018-180del	ENSP00000440520.1:n.2018-183_2018-180del
ENST00000545707.5:c.1607-183_1607-180del	ENSP00000437639.1:n.1607-183_1607-180del
ENST00000557933.5:c.2141-183_2141-180del	ENSP00000453557.1:n.2141-183_2141-180del
ENST00000558013.5:c.2141-183_2141-180del	ENSP00000453346.1:n.2141-183_2141-180del
ENST00000558518.5:c.2141-183_2141-180del	ENSP00000454071.1:n.2141-183_2141-180del
NM_000527.4:c.2141-183_2141-180del , LRG_274t1:c.2141-183_2141-180del	NP_000518.1:n.2141-183_2141-180del
NM_001195798.1:c.2141-183_2141-180del	NP_001182727.1:n.2141-183_2141-180del
NM_001195799.1:c.2018-183_2018-180del	NP_001182728.1:n.2018-183_2018-180del
NM_001195800.1:c.1637-183_1637-180del	NP_001182729.1:n.1637-183_1637-180del
NM_001195803.1:c.1607-183_1607-180del	NP_001182732.1:n.1607-183_1607-180del
XM_011528010.1:c.2141-183_2141-180del	XP_011526312.1:n.2141-183_2141-180del
XM_011528011.1:c.1760-183_1760-180del	XP_011526313.1:n.1760-183_1760-180del
XR_244074.2:n.2151-183_2151-180del
XM_011528010.2:c.2141-183_2141-180del	XP_011526312.1:n.2141-183_2141-180del
XR_001753685.2:n.2475-183_2475-180del
XR_001753686.2:n.2118-183_2118-180del
NM_000527.5:c.2141-183_2141-180del MANE Select	NP_000518.1:n.2141-183_2141-180del
NM_001195798.2:c.2141-183_2141-180del	NP_001182727.1:n.2141-183_2141-180del
NM_001195799.2:c.2018-183_2018-180del	NP_001182728.1:n.2018-183_2018-180del
NM_001195800.2:c.1637-183_1637-180del	NP_001182729.1:n.1637-183_1637-180del
NM_001195803.2:c.1607-183_1607-180del	NP_001182732.1:n.1607-183_1607-180del