Canonical Allele Identifier: CA993520246

Gene: LDLR

Linked Data

• dbSNP Id: rs2077521318
• gnomAD v3: 19-11120016-AGTT-A
• gnomAD v4: 19-11120016-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120019_11120021del , CM000681.2:g.11120019_11120021del	GRCh38
NC_000019.9:g.11230695_11230697del , CM000681.1:g.11230695_11230697del	GRCh37
NC_000019.8:g.11091695_11091697del	NCBI36
NG_009060.1:g.35639_35641del , LRG_274:g.35639_35641del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-73_2104-71del	ENSP00000252444.6:n.2104-73_2104-71del
ENST00000559340.2:c.1706-73_1706-71del	ENSP00000453696.2:n.1706-73_1706-71del
ENST00000560467.2:c.1726-73_1726-71del	ENSP00000453513.2:n.1726-73_1726-71del
ENST00000558518.6:c.1846-73_1846-71del MANE Select	ENSP00000454071.1:n.1846-73_1846-71del
ENST00000252444.9:c.2100-73_2100-71del
ENST00000455727.6:c.1342-73_1342-71del	ENSP00000397829.2:n.1342-73_1342-71del
ENST00000535915.5:c.1723-73_1723-71del	ENSP00000440520.1:n.1723-73_1723-71del
ENST00000545707.5:c.1465-73_1465-71del	ENSP00000437639.1:n.1465-73_1465-71del
ENST00000557933.5:c.1846-73_1846-71del	ENSP00000453557.1:n.1846-73_1846-71del
ENST00000558013.5:c.1846-73_1846-71del	ENSP00000453346.1:n.1846-73_1846-71del
ENST00000558518.5:c.1846-73_1846-71del	ENSP00000454071.1:n.1846-73_1846-71del
ENST00000559340.1:c.427-73_427-71del
NM_000527.4:c.1846-73_1846-71del , LRG_274t1:c.1846-73_1846-71del	NP_000518.1:n.1846-73_1846-71del
NM_001195798.1:c.1846-73_1846-71del	NP_001182727.1:n.1846-73_1846-71del
NM_001195799.1:c.1723-73_1723-71del	NP_001182728.1:n.1723-73_1723-71del
NM_001195800.1:c.1342-73_1342-71del	NP_001182729.1:n.1342-73_1342-71del
NM_001195803.1:c.1465-73_1465-71del	NP_001182732.1:n.1465-73_1465-71del
XM_011528010.1:c.1846-73_1846-71del	XP_011526312.1:n.1846-73_1846-71del
XM_011528011.1:c.1465-73_1465-71del	XP_011526313.1:n.1465-73_1465-71del
XR_244074.2:n.1856-73_1856-71del
XM_011528010.2:c.1846-73_1846-71del	XP_011526312.1:n.1846-73_1846-71del
XR_001753685.2:n.1963-73_1963-71del
XR_001753686.2:n.1823-73_1823-71del
NM_000527.5:c.1846-73_1846-71del MANE Select	NP_000518.1:n.1846-73_1846-71del
NM_001195798.2:c.1846-73_1846-71del	NP_001182727.1:n.1846-73_1846-71del
NM_001195799.2:c.1723-73_1723-71del	NP_001182728.1:n.1723-73_1723-71del
NM_001195800.2:c.1342-73_1342-71del	NP_001182729.1:n.1342-73_1342-71del
NM_001195803.2:c.1465-73_1465-71del	NP_001182732.1:n.1465-73_1465-71del