Canonical Allele Identifier: CA2582471253

Gene: LDLR LDLR-AS1

Linked Data

• gnomAD v4: 19-11089494-AGGACACAGCAGGTCGTGATCCGGGTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089501_11089527del , CM000681.2:g.11089501_11089527del	GRCh38
NC_000019.9:g.11200177_11200203del , CM000681.1:g.11200177_11200203del	GRCh37
NC_000019.8:g.11061177_11061203del	NCBI36
NG_009060.1:g.5121_5147del , LRG_274:g.5121_5147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559340.2:c.-48_-22del (LDLR)	ENSP00000453696.2:n.-48_-22del
ENST00000560467.2:c.-48_-22del (LDLR)	ENSP00000453513.2:n.-48_-22del
ENST00000558518.6:c.-48_-22del (LDLR) MANE Select	ENSP00000454071.1:n.-48_-22del
ENST00000455727.6:c.-48_-22del (LDLR)	ENSP00000397829.2:n.-48_-22del
ENST00000535915.5:c.-48_-22del (LDLR)	ENSP00000440520.1:n.-48_-22del
ENST00000545707.5:c.-48_-22del (LDLR)	ENSP00000437639.1:n.-48_-22del
ENST00000557933.5:c.-48_-22del (LDLR)	ENSP00000453557.1:n.-48_-22del
ENST00000557958.1:n.39_65del (LDLR)
ENST00000558013.5:c.-48_-22del (LDLR)	ENSP00000453346.1:n.-48_-22del
ENST00000558518.5:c.-48_-22del (LDLR)	ENSP00000454071.1:n.-48_-22del
ENST00000560502.5:n.39_65del (LDLR)
NM_000527.4:c.-48_-22del , LRG_274t1:c.-48_-22del (LDLR)	NP_000518.1:n.-48_-22del
NM_001195798.1:c.-48_-22del (LDLR)	NP_001182727.1:n.-48_-22del
NM_001195799.1:c.-48_-22del (LDLR)	NP_001182728.1:n.-48_-22del
NM_001195800.1:c.-48_-22del (LDLR)	NP_001182729.1:n.-48_-22del
NM_001195803.1:c.-48_-22del (LDLR)	NP_001182732.1:n.-48_-22del
XM_011528010.1:c.-48_-22del (LDLR)	XP_011526312.1:n.-48_-22del
XM_011528011.1:c.-48_-22del (LDLR)	XP_011526313.1:n.-48_-22del
XR_244074.2:n.103_129del (LDLR)
XM_011528010.2:c.-48_-22del (LDLR)	XP_011526312.1:n.-48_-22del
XR_001753685.2:n.70_96del (LDLR)
XR_001753686.2:n.70_96del (LDLR)
NM_000527.5:c.-48_-22del (LDLR) MANE Select	NP_000518.1:n.-48_-22del
NM_001195798.2:c.-48_-22del (LDLR)	NP_001182727.1:n.-48_-22del
NM_001195799.2:c.-48_-22del (LDLR)	NP_001182728.1:n.-48_-22del
NM_001195800.2:c.-48_-22del (LDLR)	NP_001182729.1:n.-48_-22del
NM_001195803.2:c.-48_-22del (LDLR)	NP_001182732.1:n.-48_-22del
NR_163945.1:n.139_165del (LDLR-AS1)