Canonical Allele Identifier: CA993521434

Gene: LDLR

Linked Data

• dbSNP Id: rs2077562949
• gnomAD v3: 19-11122120-CAG-C
• gnomAD v4: 19-11122120-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11122123_11122124del , CM000681.2:g.11122123_11122124del	GRCh38
NC_000019.9:g.11232799_11232800del , CM000681.1:g.11232799_11232800del	GRCh37
NC_000019.8:g.11093799_11093800del	NCBI36
NG_009060.1:g.37743_37744del , LRG_274:g.37743_37744del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2399-1051_2399-1050del	ENSP00000252444.6:n.2399-1051_2399-1050de...
ENST00000559340.2:c.*210-1051_*210-1050del	ENSP00000453696.2:n.*210-1051_*210-1050de...
ENST00000560467.2:c.2021-1051_2021-1050del	ENSP00000453513.2:n.2021-1051_2021-1050de...
ENST00000558518.6:c.2141-1051_2141-1050del MANE Select	ENSP00000454071.1:n.2141-1051_2141-1050de...
ENST00000252444.9:c.2395-1051_2395-1050del
ENST00000455727.6:c.1637-1051_1637-1050del	ENSP00000397829.2:n.1637-1051_1637-1050de...
ENST00000535915.5:c.2018-1051_2018-1050del	ENSP00000440520.1:n.2018-1051_2018-1050de...
ENST00000545707.5:c.1607-1051_1607-1050del	ENSP00000437639.1:n.1607-1051_1607-1050de...
ENST00000557933.5:c.2141-1051_2141-1050del	ENSP00000453557.1:n.2141-1051_2141-1050de...
ENST00000558013.5:c.2141-1051_2141-1050del	ENSP00000453346.1:n.2141-1051_2141-1050de...
ENST00000558518.5:c.2141-1051_2141-1050del	ENSP00000454071.1:n.2141-1051_2141-1050de...
NM_000527.4:c.2141-1051_2141-1050del , LRG_274t1:c.2141-1051_2141-1050del	NP_000518.1:n.2141-1051_2141-1050del
NM_001195798.1:c.2141-1051_2141-1050del	NP_001182727.1:n.2141-1051_2141-1050del
NM_001195799.1:c.2018-1051_2018-1050del	NP_001182728.1:n.2018-1051_2018-1050del
NM_001195800.1:c.1637-1051_1637-1050del	NP_001182729.1:n.1637-1051_1637-1050del
NM_001195803.1:c.1607-1051_1607-1050del	NP_001182732.1:n.1607-1051_1607-1050del
XM_011528010.1:c.2141-1051_2141-1050del	XP_011526312.1:n.2141-1051_2141-1050del
XM_011528011.1:c.1760-1051_1760-1050del	XP_011526313.1:n.1760-1051_1760-1050del
XR_244074.2:n.2151-1051_2151-1050del
XM_011528010.2:c.2141-1051_2141-1050del	XP_011526312.1:n.2141-1051_2141-1050del
XR_001753685.2:n.2475-1051_2475-1050del
XR_001753686.2:n.2118-1051_2118-1050del
NM_000527.5:c.2141-1051_2141-1050del MANE Select	NP_000518.1:n.2141-1051_2141-1050del
NM_001195798.2:c.2141-1051_2141-1050del	NP_001182727.1:n.2141-1051_2141-1050del
NM_001195799.2:c.2018-1051_2018-1050del	NP_001182728.1:n.2018-1051_2018-1050del
NM_001195800.2:c.1637-1051_1637-1050del	NP_001182729.1:n.1637-1051_1637-1050del
NM_001195803.2:c.1607-1051_1607-1050del	NP_001182732.1:n.1607-1051_1607-1050del