Canonical Allele Identifier: CA2695195456

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120408_11120410del , CM000681.2:g.11120408_11120410del	GRCh38
NC_000019.9:g.11231084_11231086del , CM000681.1:g.11231084_11231086del	GRCh37
NC_000019.8:g.11092084_11092086del	NCBI36
NG_009060.1:g.36028_36030del , LRG_274:g.36028_36030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2284_2286del	ENSP00000252444.6:p.Gly762del
ENST00000559340.2:c.*95_*97del	ENSP00000453696.2:n.*95_*97del
ENST00000560467.2:c.1906_1908del	ENSP00000453513.2:p.Gly636del
ENST00000558518.6:c.2026_2028del MANE Select	ENSP00000454071.1:p.Gly676del
ENST00000252444.9:c.2280_2282del
ENST00000455727.6:c.1522_1524del	ENSP00000397829.2:p.Gly508del
ENST00000535915.5:c.1903_1905del	ENSP00000440520.1:p.Gly635del
ENST00000545707.5:c.1606+175_1606+177del	ENSP00000437639.1:n.1606+175_1606+177del
ENST00000557933.5:c.2026_2028del	ENSP00000453557.1:p.Gly676del
ENST00000558013.5:c.2026_2028del	ENSP00000453346.1:p.Gly676del
ENST00000558518.5:c.2026_2028del	ENSP00000454071.1:p.Gly676del
NM_000527.4:c.2026_2028del , LRG_274t1:c.2026_2028del	NP_000518.1:p.Gly676del
NM_001195798.1:c.2026_2028del	NP_001182727.1:p.Gly676del
NM_001195799.1:c.1903_1905del	NP_001182728.1:p.Gly635del
NM_001195800.1:c.1522_1524del	NP_001182729.1:p.Gly508del
NM_001195803.1:c.1606+175_1606+177del	NP_001182732.1:n.1606+175_1606+177del
XM_011528010.1:c.2026_2028del	XP_011526312.1:p.Gly676del
XM_011528011.1:c.1645_1647del	XP_011526313.1:p.Gly549del
XR_244074.2:n.2036_2038del
XM_011528010.2:c.2026_2028del	XP_011526312.1:p.Gly676del
XR_001753685.2:n.2143_2145del
XR_001753686.2:n.2003_2005del
NM_000527.5:c.2026_2028del MANE Select	NP_000518.1:p.Gly676del
NM_001195798.2:c.2026_2028del	NP_001182727.1:p.Gly676del
NM_001195799.2:c.1903_1905del	NP_001182728.1:p.Gly635del
NM_001195800.2:c.1522_1524del	NP_001182729.1:p.Gly508del
NM_001195803.2:c.1606+175_1606+177del	NP_001182732.1:n.1606+175_1606+177del