Canonical Allele Identifier: CA631765758

Gene: LDLR

Linked Data

• dbSNP Id: rs1275345613
• gnomAD v2: 19-11222369-TGGTGGGGGA-T
• gnomAD v4: 19-11111693-TGGTGGGGGA-T
• MyVariant Identifiers: chr19:g.11222370_11222378del (hg19) ; chr19:g.11111694_11111702del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111695_11111703del , CM000681.2:g.11111695_11111703del	GRCh38
NC_000019.9:g.11222371_11222379del , CM000681.1:g.11222371_11222379del	GRCh37
NC_000019.8:g.11083371_11083379del	NCBI36
NG_009060.1:g.27315_27323del , LRG_274:g.27315_27323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+56_1444+64del	ENSP00000252444.6:n.1444+56_1444+64del
ENST00000559340.2:c.1186+56_1186+64del	ENSP00000453696.2:n.1186+56_1186+64del
ENST00000560467.2:c.1066+56_1066+64del	ENSP00000453513.2:n.1066+56_1066+64del
ENST00000558518.6:c.1186+56_1186+64del MANE Select	ENSP00000454071.1:n.1186+56_1186+64del
ENST00000252444.9:c.1440+56_1440+64del
ENST00000455727.6:c.682+56_682+64del	ENSP00000397829.2:n.682+56_682+64del
ENST00000535915.5:c.1063+56_1063+64del	ENSP00000440520.1:n.1063+56_1063+64del
ENST00000545707.5:c.805+56_805+64del	ENSP00000437639.1:n.805+56_805+64del
ENST00000557933.5:c.1186+56_1186+64del	ENSP00000453557.1:n.1186+56_1186+64del
ENST00000558013.5:c.1186+56_1186+64del	ENSP00000453346.1:n.1186+56_1186+64del
ENST00000558518.5:c.1186+56_1186+64del	ENSP00000454071.1:n.1186+56_1186+64del
ENST00000560173.1:n.185+56_185+64del
ENST00000560467.1:c.666+56_666+64del
NM_000527.4:c.1186+56_1186+64del , LRG_274t1:c.1186+56_1186+64del	NP_000518.1:n.1186+56_1186+64del
NM_001195798.1:c.1186+56_1186+64del	NP_001182727.1:n.1186+56_1186+64del
NM_001195799.1:c.1063+56_1063+64del	NP_001182728.1:n.1063+56_1063+64del
NM_001195800.1:c.682+56_682+64del	NP_001182729.1:n.682+56_682+64del
NM_001195803.1:c.805+56_805+64del	NP_001182732.1:n.805+56_805+64del
XM_011528010.1:c.1186+56_1186+64del	XP_011526312.1:n.1186+56_1186+64del
XM_011528011.1:c.805+56_805+64del	XP_011526313.1:n.805+56_805+64del
XR_244074.2:n.1336+56_1336+64del
XM_011528010.2:c.1186+56_1186+64del	XP_011526312.1:n.1186+56_1186+64del
XR_001753685.2:n.1303+56_1303+64del
XR_001753686.2:n.1303+56_1303+64del
NM_000527.5:c.1186+56_1186+64del MANE Select	NP_000518.1:n.1186+56_1186+64del
NM_001195798.2:c.1186+56_1186+64del	NP_001182727.1:n.1186+56_1186+64del
NM_001195799.2:c.1063+56_1063+64del	NP_001182728.1:n.1063+56_1063+64del
NM_001195800.2:c.682+56_682+64del	NP_001182729.1:n.682+56_682+64del
NM_001195803.2:c.805+56_805+64del	NP_001182732.1:n.805+56_805+64del