Canonical Allele Identifier: CA2573050594
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111571_11111574del , CM000681.2:g.11111571_11111574del GRCh38
NC_000019.9:g.11222247_11222250del , CM000681.1:g.11222247_11222250del GRCh37
NC_000019.8:g.11083247_11083250del NCBI36
NG_009060.1:g.27191_27194del , LRG_274:g.27191_27194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1376_1379del ENSP00000252444.6:p.Gly459AlafsTer?
ENST00000559340.2:c.1118_1121del ENSP00000453696.2:p.Gly373AlafsTer?
ENST00000560467.2:c.998_1001del ENSP00000453513.2:p.Gly333AlafsTer?
ENST00000558518.6:c.1118_1121del MANE Select ENSP00000454071.1:p.Gly373AlafsTer?
ENST00000252444.9:c.1372_1375del
ENST00000455727.6:c.614_617del ENSP00000397829.2:p.Gly205AlafsTer?
ENST00000535915.5:c.995_998del ENSP00000440520.1:p.Gly332AlafsTer?
ENST00000545707.5:c.737_740del ENSP00000437639.1:p.Gly246AlafsTer?
ENST00000557933.5:c.1118_1121del ENSP00000453557.1:p.Gly373AlafsTer?
ENST00000558013.5:c.1118_1121del ENSP00000453346.1:p.Gly373AlafsTer?
ENST00000558518.5:c.1118_1121del ENSP00000454071.1:p.Gly373AlafsTer?
ENST00000560173.1:n.117_120del
ENST00000560467.1:c.598_601del
NM_000527.4:c.1118_1121del , LRG_274t1:c.1118_1121del NP_000518.1:p.Gly373AlafsTer?
NM_001195798.1:c.1118_1121del NP_001182727.1:p.Gly373AlafsTer?
NM_001195799.1:c.995_998del NP_001182728.1:p.Gly332AlafsTer?
NM_001195800.1:c.614_617del NP_001182729.1:p.Gly205AlafsTer?
NM_001195803.1:c.737_740del NP_001182732.1:p.Gly246AlafsTer?
XM_011528010.1:c.1118_1121del XP_011526312.1:p.Gly373AlafsTer?
XM_011528011.1:c.737_740del XP_011526313.1:p.Gly246AlafsTer?
XR_244074.2:n.1268_1271del
XM_011528010.2:c.1118_1121del XP_011526312.1:p.Gly373AlafsTer?
XR_001753685.2:n.1235_1238del
XR_001753686.2:n.1235_1238del
NM_000527.5:c.1118_1121del MANE Select NP_000518.1:p.Gly373AlafsTer?
NM_001195798.2:c.1118_1121del NP_001182727.1:p.Gly373AlafsTer?
NM_001195799.2:c.995_998del NP_001182728.1:p.Gly332AlafsTer?
NM_001195800.2:c.614_617del NP_001182729.1:p.Gly205AlafsTer?
NM_001195803.2:c.737_740del NP_001182732.1:p.Gly246AlafsTer?