Canonical Allele Identifier: CA2695228160

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120173_11120187del , CM000681.2:g.11120173_11120187del	GRCh38
NC_000019.9:g.11230849_11230863del , CM000681.1:g.11230849_11230863del	GRCh37
NC_000019.8:g.11091849_11091863del	NCBI36
NG_009060.1:g.35793_35807del , LRG_274:g.35793_35807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2185_2199del	ENSP00000252444.6:p.Ala729_Leu733del
ENST00000559340.2:c.1787_*10del	ENSP00000453696.2:n.[c.1787_*10del;Gly596ValfsTer21]
ENST00000560467.2:c.1807_1821del	ENSP00000453513.2:p.Ala603_Leu607del
ENST00000558518.6:c.1927_1941del MANE Select	ENSP00000454071.1:p.Ala643_Leu647del
ENST00000252444.9:c.2181_2195del
ENST00000455727.6:c.1423_1437del	ENSP00000397829.2:p.Ala475_Leu479del
ENST00000535915.5:c.1804_1818del	ENSP00000440520.1:p.Ala602_Leu606del
ENST00000545707.5:c.1546_1560del	ENSP00000437639.1:p.Ala516_Leu520del
ENST00000557933.5:c.1927_1941del	ENSP00000453557.1:p.Ala643_Leu647del
ENST00000558013.5:c.1927_1941del	ENSP00000453346.1:p.Ala643_Leu647del
ENST00000558518.5:c.1927_1941del	ENSP00000454071.1:p.Ala643_Leu647del
ENST00000559340.1:c.508_522del
NM_000527.4:c.1927_1941del , LRG_274t1:c.1927_1941del	NP_000518.1:p.Ala643_Leu647del
NM_001195798.1:c.1927_1941del	NP_001182727.1:p.Ala643_Leu647del
NM_001195799.1:c.1804_1818del	NP_001182728.1:p.Ala602_Leu606del
NM_001195800.1:c.1423_1437del	NP_001182729.1:p.Ala475_Leu479del
NM_001195803.1:c.1546_1560del	NP_001182732.1:p.Ala516_Leu520del
XM_011528010.1:c.1927_1941del	XP_011526312.1:p.Ala643_Leu647del
XM_011528011.1:c.1546_1560del	XP_011526313.1:p.Ala516_Leu520del
XR_244074.2:n.1937_1951del
XM_011528010.2:c.1927_1941del	XP_011526312.1:p.Ala643_Leu647del
XR_001753685.2:n.2044_2058del
XR_001753686.2:n.1904_1918del
NM_000527.5:c.1927_1941del MANE Select	NP_000518.1:p.Ala643_Leu647del
NM_001195798.2:c.1927_1941del	NP_001182727.1:p.Ala643_Leu647del
NM_001195799.2:c.1804_1818del	NP_001182728.1:p.Ala602_Leu606del
NM_001195800.2:c.1423_1437del	NP_001182729.1:p.Ala475_Leu479del
NM_001195803.2:c.1546_1560del	NP_001182732.1:p.Ala516_Leu520del