Canonical Allele Identifier: CA631766399

Gene: LDLR

Linked Data

• dbSNP Id: rs1279621733
• gnomAD v2: 19-11223933-CCT-C
• gnomAD v4: 19-11113257-CCT-C
• MyVariant Identifiers: chr19:g.11223934_11223935del (hg19) ; chr19:g.11113258_11113259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113259_11113260del , CM000681.2:g.11113259_11113260del	GRCh38
NC_000019.9:g.11223935_11223936del , CM000681.1:g.11223935_11223936del	GRCh37
NC_000019.8:g.11084935_11084936del	NCBI36
NG_009060.1:g.28879_28880del , LRG_274:g.28879_28880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-19_1445-18del	ENSP00000252444.6:n.1445-19_1445-18del
ENST00000559340.2:c.1187-19_1187-18del	ENSP00000453696.2:n.1187-19_1187-18del
ENST00000560467.2:c.1067-19_1067-18del	ENSP00000453513.2:n.1067-19_1067-18del
ENST00000558518.6:c.1187-19_1187-18del MANE Select	ENSP00000454071.1:n.1187-19_1187-18del
ENST00000252444.9:c.1441-19_1441-18del
ENST00000455727.6:c.683-19_683-18del	ENSP00000397829.2:n.683-19_683-18del
ENST00000535915.5:c.1064-19_1064-18del	ENSP00000440520.1:n.1064-19_1064-18del
ENST00000545707.5:c.806-19_806-18del	ENSP00000437639.1:n.806-19_806-18del
ENST00000557933.5:c.1187-19_1187-18del	ENSP00000453557.1:n.1187-19_1187-18del
ENST00000558013.5:c.1187-19_1187-18del	ENSP00000453346.1:n.1187-19_1187-18del
ENST00000558518.5:c.1187-19_1187-18del	ENSP00000454071.1:n.1187-19_1187-18del
ENST00000560173.1:n.186-19_186-18del
ENST00000560467.1:c.667-19_667-18del
NM_000527.4:c.1187-19_1187-18del , LRG_274t1:c.1187-19_1187-18del	NP_000518.1:n.1187-19_1187-18del
NM_001195798.1:c.1187-19_1187-18del	NP_001182727.1:n.1187-19_1187-18del
NM_001195799.1:c.1064-19_1064-18del	NP_001182728.1:n.1064-19_1064-18del
NM_001195800.1:c.683-19_683-18del	NP_001182729.1:n.683-19_683-18del
NM_001195803.1:c.806-19_806-18del	NP_001182732.1:n.806-19_806-18del
XM_011528010.1:c.1187-19_1187-18del	XP_011526312.1:n.1187-19_1187-18del
XM_011528011.1:c.806-19_806-18del	XP_011526313.1:n.806-19_806-18del
XR_244074.2:n.1337-19_1337-18del
XM_011528010.2:c.1187-19_1187-18del	XP_011526312.1:n.1187-19_1187-18del
XR_001753685.2:n.1304-19_1304-18del
XR_001753686.2:n.1304-19_1304-18del
NM_000527.5:c.1187-19_1187-18del MANE Select	NP_000518.1:n.1187-19_1187-18del
NM_001195798.2:c.1187-19_1187-18del	NP_001182727.1:n.1187-19_1187-18del
NM_001195799.2:c.1064-19_1064-18del	NP_001182728.1:n.1064-19_1064-18del
NM_001195800.2:c.683-19_683-18del	NP_001182729.1:n.683-19_683-18del
NM_001195803.2:c.806-19_806-18del	NP_001182732.1:n.806-19_806-18del