Canonical Allele Identifier: CA783245209

Gene: LDLR

Linked Data

• dbSNP Id: rs1377371389
• MyVariant Identifiers: chr19:g.11219123_11219125del (hg19) ; chr19:g.11108447_11108449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11108449_11108451del , CM000681.2:g.11108449_11108451del	GRCh38
NC_000019.9:g.11219125_11219127del , CM000681.1:g.11219125_11219127del	GRCh37
NC_000019.8:g.11080125_11080127del	NCBI36
NG_009060.1:g.24069_24071del , LRG_274:g.24069_24071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1198+935_1198+937del	ENSP00000252444.6:n.1198+935_1198+937del
ENST00000559340.2:c.940+935_940+937del	ENSP00000453696.2:n.940+935_940+937del
ENST00000560467.2:c.940+935_940+937del	ENSP00000453513.2:n.940+935_940+937del
ENST00000558518.6:c.940+935_940+937del MANE Select	ENSP00000454071.1:n.940+935_940+937del
ENST00000252444.9:c.1194+935_1194+937del
ENST00000455727.6:c.436+935_436+937del	ENSP00000397829.2:n.436+935_436+937del
ENST00000535915.5:c.817+935_817+937del	ENSP00000440520.1:n.817+935_817+937del
ENST00000545707.5:c.559+935_559+937del	ENSP00000437639.1:n.559+935_559+937del
ENST00000557933.5:c.940+935_940+937del	ENSP00000453557.1:n.940+935_940+937del
ENST00000558013.5:c.940+935_940+937del	ENSP00000453346.1:n.940+935_940+937del
ENST00000558518.5:c.940+935_940+937del	ENSP00000454071.1:n.940+935_940+937del
ENST00000560467.1:c.540+935_540+937del
NM_000527.4:c.940+935_940+937del , LRG_274t1:c.940+935_940+937del	NP_000518.1:n.940+935_940+937del
NM_001195798.1:c.940+935_940+937del	NP_001182727.1:n.940+935_940+937del
NM_001195799.1:c.817+935_817+937del	NP_001182728.1:n.817+935_817+937del
NM_001195800.1:c.436+935_436+937del	NP_001182729.1:n.436+935_436+937del
NM_001195803.1:c.559+935_559+937del	NP_001182732.1:n.559+935_559+937del
XM_011528010.1:c.940+935_940+937del	XP_011526312.1:n.940+935_940+937del
XM_011528011.1:c.559+935_559+937del	XP_011526313.1:n.559+935_559+937del
XR_244074.2:n.1090+935_1090+937del
XM_011528010.2:c.940+935_940+937del	XP_011526312.1:n.940+935_940+937del
XR_001753685.2:n.1057+935_1057+937del
XR_001753686.2:n.1057+935_1057+937del
NM_000527.5:c.940+935_940+937del MANE Select	NP_000518.1:n.940+935_940+937del
NM_001195798.2:c.940+935_940+937del	NP_001182727.1:n.940+935_940+937del
NM_001195799.2:c.817+935_817+937del	NP_001182728.1:n.817+935_817+937del
NM_001195800.2:c.436+935_436+937del	NP_001182729.1:n.436+935_436+937del
NM_001195803.2:c.559+935_559+937del	NP_001182732.1:n.559+935_559+937del