Canonical Allele Identifier: CA783247539

Gene: LDLR

Linked Data

• dbSNP Id: rs1162476193
• MyVariant Identifiers: chr19:g.11230650_11230653del (hg19) ; chr19:g.11119974_11119977del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119974_11119977del , CM000681.2:g.11119974_11119977del	GRCh38
NC_000019.9:g.11230650_11230653del , CM000681.1:g.11230650_11230653del	GRCh37
NC_000019.8:g.11091650_11091653del	NCBI36
NG_009060.1:g.35594_35597del , LRG_274:g.35594_35597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-118_2104-115del	ENSP00000252444.6:n.2104-118_2104-115del
ENST00000559340.2:c.1706-118_1706-115del	ENSP00000453696.2:n.1706-118_1706-115del
ENST00000560467.2:c.1726-118_1726-115del	ENSP00000453513.2:n.1726-118_1726-115del
ENST00000558518.6:c.1846-118_1846-115del MANE Select	ENSP00000454071.1:n.1846-118_1846-115del
ENST00000252444.9:c.2100-118_2100-115del
ENST00000455727.6:c.1342-118_1342-115del	ENSP00000397829.2:n.1342-118_1342-115del
ENST00000535915.5:c.1723-118_1723-115del	ENSP00000440520.1:n.1723-118_1723-115del
ENST00000545707.5:c.1465-118_1465-115del	ENSP00000437639.1:n.1465-118_1465-115del
ENST00000557933.5:c.1846-118_1846-115del	ENSP00000453557.1:n.1846-118_1846-115del
ENST00000558013.5:c.1846-118_1846-115del	ENSP00000453346.1:n.1846-118_1846-115del
ENST00000558518.5:c.1846-118_1846-115del	ENSP00000454071.1:n.1846-118_1846-115del
ENST00000559340.1:c.427-118_427-115del
NM_000527.4:c.1846-118_1846-115del , LRG_274t1:c.1846-118_1846-115del	NP_000518.1:n.1846-118_1846-115del
NM_001195798.1:c.1846-118_1846-115del	NP_001182727.1:n.1846-118_1846-115del
NM_001195799.1:c.1723-118_1723-115del	NP_001182728.1:n.1723-118_1723-115del
NM_001195800.1:c.1342-118_1342-115del	NP_001182729.1:n.1342-118_1342-115del
NM_001195803.1:c.1465-118_1465-115del	NP_001182732.1:n.1465-118_1465-115del
XM_011528010.1:c.1846-118_1846-115del	XP_011526312.1:n.1846-118_1846-115del
XM_011528011.1:c.1465-118_1465-115del	XP_011526313.1:n.1465-118_1465-115del
XR_244074.2:n.1856-118_1856-115del
XM_011528010.2:c.1846-118_1846-115del	XP_011526312.1:n.1846-118_1846-115del
XR_001753685.2:n.1963-118_1963-115del
XR_001753686.2:n.1823-118_1823-115del
NM_000527.5:c.1846-118_1846-115del MANE Select	NP_000518.1:n.1846-118_1846-115del
NM_001195798.2:c.1846-118_1846-115del	NP_001182727.1:n.1846-118_1846-115del
NM_001195799.2:c.1723-118_1723-115del	NP_001182728.1:n.1723-118_1723-115del
NM_001195800.2:c.1342-118_1342-115del	NP_001182729.1:n.1342-118_1342-115del
NM_001195803.2:c.1465-118_1465-115del	NP_001182732.1:n.1465-118_1465-115del