Canonical Allele Identifier: CA645373227
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.[11105556_11105561dup;11105563_11105567del] , CM000681.2:g.[11105556_11105561dup;11105563_11105567del] GRCh38
NC_000019.9:g.[11216232_11216237dup;11216239_11216243del] , CM000681.1:g.[11216232_11216237dup;11216239_11216243del] GRCh37
NC_000019.8:g.[11077232_11077237dup;11077239_11077243del] NCBI36
NG_009060.1:g.[21176_21181dup;21183_21187del] , LRG_274:g.[21176_21181dup;21183_21187del]

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.[908_913dup;915_919del] ENSP00000252444.6:p.[Gly304_Gly305insAspGly;Gly305=]
ENST00000559340.2:c.[650_655dup;657_661del] ENSP00000453696.2:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000560467.2:c.[650_655dup;657_661del] ENSP00000453513.2:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000558518.6:c.[650_655dup;657_661del] MANE Select ENSP00000454071.1:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000252444.9:c.[904_909dup;911_915del]
ENST00000455727.6:c.[314-1836_314-1831dup;314-1829_314-1825del] ENSP00000397829.2:n.[314-1836_314-1831dup;314-1829_314-1825de...
ENST00000535915.5:c.[527_532dup;534_538del] ENSP00000440520.1:p.[Gly177_Gly178insAspGly;Gly178=]
ENST00000545707.5:c.[314-1009_314-1004dup;314-1002_314-998del] ENSP00000437639.1:n.[314-1009_314-1004dup;314-1002_314-998del...
ENST00000557933.5:c.[650_655dup;657_661del] ENSP00000453557.1:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000558013.5:c.[650_655dup;657_661del] ENSP00000453346.1:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000558518.5:c.[650_655dup;657_661del] ENSP00000454071.1:p.[Gly218_Gly219insAspGly;Gly219=]
ENST00000560467.1:c.[250_255dup;257_261del]
NM_000527.4:c.[650_655dup;657_661del] , LRG_274t1:c.[650_655dup;657_661del] NP_000518.1:p.[Gly218_Gly219insAspGly;Gly219=]
NM_001195798.1:c.[650_655dup;657_661del] NP_001182727.1:p.[Gly218_Gly219insAspGly;Gly219=]
NM_001195799.1:c.[527_532dup;534_538del] NP_001182728.1:p.[Gly177_Gly178insAspGly;Gly178=]
NM_001195800.1:c.[314-1836_314-1831dup;314-1829_314-1825del] NP_001182729.1:n.[314-1836_314-1831dup;314-1829_314-1825del]
NM_001195803.1:c.[314-1009_314-1004dup;314-1002_314-998del] NP_001182732.1:n.[314-1009_314-1004dup;314-1002_314-998del]
XM_011528010.1:c.[650_655dup;657_661del] XP_011526312.1:p.[Gly218_Gly219insAspGly;Gly219=]
XM_011528011.1:c.[314-1009_314-1004dup;314-1002_314-998del] XP_011526313.1:n.[314-1009_314-1004dup;314-1002_314-998del]
XR_244074.2:n.[800_805dup;807_811del]
XM_011528010.2:c.[650_655dup;657_661del] XP_011526312.1:p.[Gly218_Gly219insAspGly;Gly219=]
XR_001753685.2:n.[767_772dup;774_778del]
XR_001753686.2:n.[767_772dup;774_778del]
NM_000527.5:c.[650_655dup;657_661del] MANE Select NP_000518.1:p.[Gly218_Gly219insAspGly;Gly219=]
NM_001195798.2:c.[650_655dup;657_661del] NP_001182727.1:p.[Gly218_Gly219insAspGly;Gly219=]
NM_001195799.2:c.[527_532dup;534_538del] NP_001182728.1:p.[Gly177_Gly178insAspGly;Gly178=]
NM_001195800.2:c.[314-1836_314-1831dup;314-1829_314-1825del] NP_001182729.1:n.[314-1836_314-1831dup;314-1829_314-1825del]
NM_001195803.2:c.[314-1009_314-1004dup;314-1002_314-998del] NP_001182732.1:n.[314-1009_314-1004dup;314-1002_314-998del]