Canonical Allele Identifier: CA645509290

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440677
• ClinVar RCV Id: RCV000508897
• dbSNP Id: rs1555807421
• MyVariant Identifiers: chr19:g.11231120_11231121insC (hg19) ; chr19:g.11120444_11120445insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120444_11120445insC , CM000681.2:g.11120444_11120445insC	GRCh38
NC_000019.9:g.11231120_11231121insC , CM000681.1:g.11231120_11231121insC	GRCh37
NC_000019.8:g.11092120_11092121insC	NCBI36
NG_009060.1:g.36064_36065insC , LRG_274:g.36064_36065insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2320_2321insC	ENSP00000252444.6:p.Asn774ThrfsTer29
ENST00000559340.2:c.*131_*132insC	ENSP00000453696.2:n.*131_*132insC
ENST00000560467.2:c.1942_1943insC	ENSP00000453513.2:p.Asn648ThrfsTer29
ENST00000558518.6:c.2062_2063insC MANE Select	ENSP00000454071.1:p.Asn688ThrfsTer29
ENST00000252444.9:c.2316_2317insC
ENST00000455727.6:c.1558_1559insC	ENSP00000397829.2:p.Asn520ThrfsTer29
ENST00000535915.5:c.1939_1940insC	ENSP00000440520.1:p.Asn647ThrfsTer29
ENST00000545707.5:c.1606+211_1606+212insC	ENSP00000437639.1:n.1606+211_1606+212insC...
ENST00000557933.5:c.2062_2063insC	ENSP00000453557.1:p.Asn688ThrfsTer29
ENST00000558013.5:c.2062_2063insC	ENSP00000453346.1:p.Asn688ThrfsTer29
ENST00000558518.5:c.2062_2063insC	ENSP00000454071.1:p.Asn688ThrfsTer29
NM_000527.4:c.2062_2063insC , LRG_274t1:c.2062_2063insC	NP_000518.1:p.Asn688ThrfsTer29
NM_001195798.1:c.2062_2063insC	NP_001182727.1:p.Asn688ThrfsTer29
NM_001195799.1:c.1939_1940insC	NP_001182728.1:p.Asn647ThrfsTer29
NM_001195800.1:c.1558_1559insC	NP_001182729.1:p.Asn520ThrfsTer29
NM_001195803.1:c.1606+211_1606+212insC	NP_001182732.1:n.1606+211_1606+212insC
XM_011528010.1:c.2062_2063insC	XP_011526312.1:p.Asn688ThrfsTer29
XM_011528011.1:c.1681_1682insC	XP_011526313.1:p.Asn561ThrfsTer29
XR_244074.2:n.2072_2073insC
XM_011528010.2:c.2062_2063insC	XP_011526312.1:p.Asn688ThrfsTer29
XR_001753685.2:n.2179_2180insC
XR_001753686.2:n.2039_2040insC
NM_000527.5:c.2062_2063insC MANE Select	NP_000518.1:p.Asn688ThrfsTer29
NM_001195798.2:c.2062_2063insC	NP_001182727.1:p.Asn688ThrfsTer29
NM_001195799.2:c.1939_1940insC	NP_001182728.1:p.Asn647ThrfsTer29
NM_001195800.2:c.1558_1559insC	NP_001182729.1:p.Asn520ThrfsTer29
NM_001195803.2:c.1606+211_1606+212insC	NP_001182732.1:n.1606+211_1606+212insC