Canonical Allele Identifier: CA783240167

Gene: LDLR

Linked Data

• dbSNP Id: rs1391109862
• MyVariant Identifiers: chr19:g.11222080_11222081del (hg19) ; chr19:g.11111404_11111405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111404_11111405del , CM000681.2:g.11111404_11111405del	GRCh38
NC_000019.9:g.11222080_11222081del , CM000681.1:g.11222080_11222081del	GRCh37
NC_000019.8:g.11083080_11083081del	NCBI36
NG_009060.1:g.27024_27025del , LRG_274:g.27024_27025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1319-110_1319-109del	ENSP00000252444.6:n.1319-110_1319-109del
ENST00000559340.2:c.1061-110_1061-109del	ENSP00000453696.2:n.1061-110_1061-109del
ENST00000560467.2:c.941-110_941-109del	ENSP00000453513.2:n.941-110_941-109del
ENST00000558518.6:c.1061-110_1061-109del MANE Select	ENSP00000454071.1:n.1061-110_1061-109del
ENST00000252444.9:c.1315-110_1315-109del
ENST00000455727.6:c.557-110_557-109del	ENSP00000397829.2:n.557-110_557-109del
ENST00000535915.5:c.938-110_938-109del	ENSP00000440520.1:n.938-110_938-109del
ENST00000545707.5:c.680-110_680-109del	ENSP00000437639.1:n.680-110_680-109del
ENST00000557933.5:c.1061-110_1061-109del	ENSP00000453557.1:n.1061-110_1061-109del
ENST00000558013.5:c.1061-110_1061-109del	ENSP00000453346.1:n.1061-110_1061-109del
ENST00000558518.5:c.1061-110_1061-109del	ENSP00000454071.1:n.1061-110_1061-109del
ENST00000560173.1:n.60-110_60-109del
ENST00000560467.1:c.541-110_541-109del
NM_000527.4:c.1061-110_1061-109del , LRG_274t1:c.1061-110_1061-109del	NP_000518.1:n.1061-110_1061-109del
NM_001195798.1:c.1061-110_1061-109del	NP_001182727.1:n.1061-110_1061-109del
NM_001195799.1:c.938-110_938-109del	NP_001182728.1:n.938-110_938-109del
NM_001195800.1:c.557-110_557-109del	NP_001182729.1:n.557-110_557-109del
NM_001195803.1:c.680-110_680-109del	NP_001182732.1:n.680-110_680-109del
XM_011528010.1:c.1061-110_1061-109del	XP_011526312.1:n.1061-110_1061-109del
XM_011528011.1:c.680-110_680-109del	XP_011526313.1:n.680-110_680-109del
XR_244074.2:n.1211-110_1211-109del
XM_011528010.2:c.1061-110_1061-109del	XP_011526312.1:n.1061-110_1061-109del
XR_001753685.2:n.1178-110_1178-109del
XR_001753686.2:n.1178-110_1178-109del
NM_000527.5:c.1061-110_1061-109del MANE Select	NP_000518.1:n.1061-110_1061-109del
NM_001195798.2:c.1061-110_1061-109del	NP_001182727.1:n.1061-110_1061-109del
NM_001195799.2:c.938-110_938-109del	NP_001182728.1:n.938-110_938-109del
NM_001195800.2:c.557-110_557-109del	NP_001182729.1:n.557-110_557-109del
NM_001195803.2:c.680-110_680-109del	NP_001182732.1:n.680-110_680-109del