Canonical Allele Identifier: CA632115467

Gene: LDLR

Linked Data

• dbSNP Id: rs1344821495
• gnomAD v2: 19-11233672-TATATAGAGATGG-T
• gnomAD v3: 19-11122996-TATATAGAGATGG-T
• gnomAD v4: 19-11122996-TATATAGAGATGG-T
• MyVariant Identifiers: chr19:g.11233673_11233684del (hg19) ; chr19:g.11122997_11123008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11122997_11123008del , CM000681.2:g.11122997_11123008del	GRCh38
NC_000019.9:g.11233673_11233684del , CM000681.1:g.11233673_11233684del	GRCh37
NC_000019.8:g.11094673_11094684del	NCBI36
NG_009060.1:g.38617_38628del , LRG_274:g.38617_38628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2399-177_2399-166del	ENSP00000252444.6:n.2399-177_2399-166del
ENST00000559340.2:c.*210-177_*210-166del	ENSP00000453696.2:n.*210-177_*210-166del
ENST00000560467.2:c.2021-177_2021-166del	ENSP00000453513.2:n.2021-177_2021-166del
ENST00000558518.6:c.2141-177_2141-166del MANE Select	ENSP00000454071.1:n.2141-177_2141-166del
ENST00000252444.9:c.2395-177_2395-166del
ENST00000455727.6:c.1637-177_1637-166del	ENSP00000397829.2:n.1637-177_1637-166del
ENST00000535915.5:c.2018-177_2018-166del	ENSP00000440520.1:n.2018-177_2018-166del
ENST00000545707.5:c.1607-177_1607-166del	ENSP00000437639.1:n.1607-177_1607-166del
ENST00000557933.5:c.2141-177_2141-166del	ENSP00000453557.1:n.2141-177_2141-166del
ENST00000558013.5:c.2141-177_2141-166del	ENSP00000453346.1:n.2141-177_2141-166del
ENST00000558518.5:c.2141-177_2141-166del	ENSP00000454071.1:n.2141-177_2141-166del
NM_000527.4:c.2141-177_2141-166del , LRG_274t1:c.2141-177_2141-166del	NP_000518.1:n.2141-177_2141-166del
NM_001195798.1:c.2141-177_2141-166del	NP_001182727.1:n.2141-177_2141-166del
NM_001195799.1:c.2018-177_2018-166del	NP_001182728.1:n.2018-177_2018-166del
NM_001195800.1:c.1637-177_1637-166del	NP_001182729.1:n.1637-177_1637-166del
NM_001195803.1:c.1607-177_1607-166del	NP_001182732.1:n.1607-177_1607-166del
XM_011528010.1:c.2141-177_2141-166del	XP_011526312.1:n.2141-177_2141-166del
XM_011528011.1:c.1760-177_1760-166del	XP_011526313.1:n.1760-177_1760-166del
XR_244074.2:n.2151-177_2151-166del
XM_011528010.2:c.2141-177_2141-166del	XP_011526312.1:n.2141-177_2141-166del
XR_001753685.2:n.2475-177_2475-166del
XR_001753686.2:n.2118-177_2118-166del
NM_000527.5:c.2141-177_2141-166del MANE Select	NP_000518.1:n.2141-177_2141-166del
NM_001195798.2:c.2141-177_2141-166del	NP_001182727.1:n.2141-177_2141-166del
NM_001195799.2:c.2018-177_2018-166del	NP_001182728.1:n.2018-177_2018-166del
NM_001195800.2:c.1637-177_1637-166del	NP_001182729.1:n.1637-177_1637-166del
NM_001195803.2:c.1607-177_1607-166del	NP_001182732.1:n.1607-177_1607-166del