Canonical Allele Identifier: CA993520076

Gene: LDLR

Linked Data

• dbSNP Id: rs2077516392
• gnomAD v3: 19-11119753-TGG-T
• gnomAD v4: 19-11119753-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119754_11119755del , CM000681.2:g.11119754_11119755del	GRCh38
NC_000019.9:g.11230430_11230431del , CM000681.1:g.11230430_11230431del	GRCh37
NC_000019.8:g.11091430_11091431del	NCBI36
NG_009060.1:g.35374_35375del , LRG_274:g.35374_35375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-338_2104-337del	ENSP00000252444.6:n.2104-338_2104-337del
ENST00000559340.2:c.1706-338_1706-337del	ENSP00000453696.2:n.1706-338_1706-337del
ENST00000560467.2:c.1726-338_1726-337del	ENSP00000453513.2:n.1726-338_1726-337del
ENST00000558518.6:c.1846-338_1846-337del MANE Select	ENSP00000454071.1:n.1846-338_1846-337del
ENST00000252444.9:c.2100-338_2100-337del
ENST00000455727.6:c.1342-338_1342-337del	ENSP00000397829.2:n.1342-338_1342-337del
ENST00000535915.5:c.1723-338_1723-337del	ENSP00000440520.1:n.1723-338_1723-337del
ENST00000545707.5:c.1465-338_1465-337del	ENSP00000437639.1:n.1465-338_1465-337del
ENST00000557933.5:c.1846-338_1846-337del	ENSP00000453557.1:n.1846-338_1846-337del
ENST00000558013.5:c.1846-338_1846-337del	ENSP00000453346.1:n.1846-338_1846-337del
ENST00000558518.5:c.1846-338_1846-337del	ENSP00000454071.1:n.1846-338_1846-337del
ENST00000559340.1:c.427-338_427-337del
NM_000527.4:c.1846-338_1846-337del , LRG_274t1:c.1846-338_1846-337del	NP_000518.1:n.1846-338_1846-337del
NM_001195798.1:c.1846-338_1846-337del	NP_001182727.1:n.1846-338_1846-337del
NM_001195799.1:c.1723-338_1723-337del	NP_001182728.1:n.1723-338_1723-337del
NM_001195800.1:c.1342-338_1342-337del	NP_001182729.1:n.1342-338_1342-337del
NM_001195803.1:c.1465-338_1465-337del	NP_001182732.1:n.1465-338_1465-337del
XM_011528010.1:c.1846-338_1846-337del	XP_011526312.1:n.1846-338_1846-337del
XM_011528011.1:c.1465-338_1465-337del	XP_011526313.1:n.1465-338_1465-337del
XR_244074.2:n.1856-338_1856-337del
XM_011528010.2:c.1846-338_1846-337del	XP_011526312.1:n.1846-338_1846-337del
XR_001753685.2:n.1963-338_1963-337del
XR_001753686.2:n.1823-338_1823-337del
NM_000527.5:c.1846-338_1846-337del MANE Select	NP_000518.1:n.1846-338_1846-337del
NM_001195798.2:c.1846-338_1846-337del	NP_001182727.1:n.1846-338_1846-337del
NM_001195799.2:c.1723-338_1723-337del	NP_001182728.1:n.1723-338_1723-337del
NM_001195800.2:c.1342-338_1342-337del	NP_001182729.1:n.1342-338_1342-337del
NM_001195803.2:c.1465-338_1465-337del	NP_001182732.1:n.1465-338_1465-337del