Canonical Allele Identifier: CA2582473981

Gene: LDLR

Linked Data

• gnomAD v4: 19-11107364-TCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107366_11107369del , CM000681.2:g.11107366_11107369del	GRCh38
NC_000019.9:g.11218042_11218045del , CM000681.1:g.11218042_11218045del	GRCh37
NC_000019.8:g.11079042_11079045del	NCBI36
NG_009060.1:g.22986_22989del , LRG_274:g.22986_22989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1076-26_1076-23del	ENSP00000252444.6:n.1076-26_1076-23del
ENST00000559340.2:c.818-26_818-23del	ENSP00000453696.2:n.818-26_818-23del
ENST00000560467.2:c.818-26_818-23del	ENSP00000453513.2:n.818-26_818-23del
ENST00000558518.6:c.818-26_818-23del MANE Select	ENSP00000454071.1:n.818-26_818-23del
ENST00000252444.9:c.1072-26_1072-23del
ENST00000455727.6:c.314-26_314-23del	ENSP00000397829.2:n.314-26_314-23del
ENST00000535915.5:c.695-26_695-23del	ENSP00000440520.1:n.695-26_695-23del
ENST00000545707.5:c.437-26_437-23del	ENSP00000437639.1:n.437-26_437-23del
ENST00000557933.5:c.818-26_818-23del	ENSP00000453557.1:n.818-26_818-23del
ENST00000558013.5:c.818-26_818-23del	ENSP00000453346.1:n.818-26_818-23del
ENST00000558518.5:c.818-26_818-23del	ENSP00000454071.1:n.818-26_818-23del
ENST00000558528.1:n.333-26_333-23del
ENST00000560467.1:c.418-26_418-23del
NM_000527.4:c.818-26_818-23del , LRG_274t1:c.818-26_818-23del	NP_000518.1:n.818-26_818-23del
NM_001195798.1:c.818-26_818-23del	NP_001182727.1:n.818-26_818-23del
NM_001195799.1:c.695-26_695-23del	NP_001182728.1:n.695-26_695-23del
NM_001195800.1:c.314-26_314-23del	NP_001182729.1:n.314-26_314-23del
NM_001195803.1:c.437-26_437-23del	NP_001182732.1:n.437-26_437-23del
XM_011528010.1:c.818-26_818-23del	XP_011526312.1:n.818-26_818-23del
XM_011528011.1:c.437-26_437-23del	XP_011526313.1:n.437-26_437-23del
XR_244074.2:n.968-26_968-23del
XM_011528010.2:c.818-26_818-23del	XP_011526312.1:n.818-26_818-23del
XR_001753685.2:n.935-26_935-23del
XR_001753686.2:n.935-26_935-23del
NM_000527.5:c.818-26_818-23del MANE Select	NP_000518.1:n.818-26_818-23del
NM_001195798.2:c.818-26_818-23del	NP_001182727.1:n.818-26_818-23del
NM_001195799.2:c.695-26_695-23del	NP_001182728.1:n.695-26_695-23del
NM_001195800.2:c.314-26_314-23del	NP_001182729.1:n.314-26_314-23del
NM_001195803.2:c.437-26_437-23del	NP_001182732.1:n.437-26_437-23del