Canonical Allele Identifier: CA631767957

Gene: LDLR

Linked Data

• dbSNP Id: rs1305542299
• gnomAD v2: 19-11230337-C-CA
• gnomAD v3: 19-11119661-C-CA
• gnomAD v4: 19-11119661-C-CA
• MyVariant Identifiers: chr19:g.11230337_11230338insA (hg19) ; chr19:g.11119661_11119662insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119671dup , CM000681.2:g.11119671dup	GRCh38
NC_000019.9:g.11230347dup , CM000681.1:g.11230347dup	GRCh37
NC_000019.8:g.11091347dup	NCBI36
NG_009060.1:g.35291dup , LRG_274:g.35291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-421dup	ENSP00000252444.6:n.2104-421dup
ENST00000559340.2:c.1706-421dup	ENSP00000453696.2:n.1706-421dup
ENST00000560467.2:c.1726-421dup	ENSP00000453513.2:n.1726-421dup
ENST00000558518.6:c.1846-421dup MANE Select	ENSP00000454071.1:n.1846-421dup
ENST00000252444.9:c.2100-421dup
ENST00000455727.6:c.1342-421dup	ENSP00000397829.2:n.1342-421dup
ENST00000535915.5:c.1723-421dup	ENSP00000440520.1:n.1723-421dup
ENST00000545707.5:c.1465-421dup	ENSP00000437639.1:n.1465-421dup
ENST00000557933.5:c.1846-421dup	ENSP00000453557.1:n.1846-421dup
ENST00000558013.5:c.1846-421dup	ENSP00000453346.1:n.1846-421dup
ENST00000558518.5:c.1846-421dup	ENSP00000454071.1:n.1846-421dup
ENST00000559340.1:c.427-421dup
NM_000527.4:c.1846-421dup , LRG_274t1:c.1846-421dup	NP_000518.1:n.1846-421dup
NM_001195798.1:c.1846-421dup	NP_001182727.1:n.1846-421dup
NM_001195799.1:c.1723-421dup	NP_001182728.1:n.1723-421dup
NM_001195800.1:c.1342-421dup	NP_001182729.1:n.1342-421dup
NM_001195803.1:c.1465-421dup	NP_001182732.1:n.1465-421dup
XM_011528010.1:c.1846-421dup	XP_011526312.1:n.1846-421dup
XM_011528011.1:c.1465-421dup	XP_011526313.1:n.1465-421dup
XR_244074.2:n.1856-421dup
XM_011528010.2:c.1846-421dup	XP_011526312.1:n.1846-421dup
XR_001753685.2:n.1963-421dup
XR_001753686.2:n.1823-421dup
NM_000527.5:c.1846-421dup MANE Select	NP_000518.1:n.1846-421dup
NM_001195798.2:c.1846-421dup	NP_001182727.1:n.1846-421dup
NM_001195799.2:c.1723-421dup	NP_001182728.1:n.1723-421dup
NM_001195800.2:c.1342-421dup	NP_001182729.1:n.1342-421dup
NM_001195803.2:c.1465-421dup	NP_001182732.1:n.1465-421dup