Canonical Allele Identifier: CA2322767534

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105514_11105515delinsAC , CM000681.2:g.11105514_11105515delinsAC	GRCh38
NC_000019.9:g.11216190_11216191delinsAC , CM000681.1:g.11216190_11216191delinsAC	GRCh37
NC_000019.8:g.11077190_11077191delinsAC	NCBI36
NG_009060.1:g.21134_21135delinsAC , LRG_274:g.21134_21135delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.866_867delinsAC	ENSP00000252444.6:p.His289=
ENST00000559340.2:c.608_609delinsAC	ENSP00000453696.2:p.His203=
ENST00000560467.2:c.608_609delinsAC	ENSP00000453513.2:p.His203=
ENST00000558518.6:c.608_609delinsAC MANE Select	ENSP00000454071.1:p.His203=
ENST00000252444.9:c.862_863delinsAC
ENST00000455727.6:c.314-1878_314-1877delinsAC	ENSP00000397829.2:n.314-1878_314-1877delinsAC
ENST00000535915.5:c.485_486delinsAC	ENSP00000440520.1:p.His162=
ENST00000545707.5:c.314-1051_314-1050delinsAC	ENSP00000437639.1:n.314-1051_314-1050delinsAC
ENST00000557933.5:c.608_609delinsAC	ENSP00000453557.1:p.His203=
ENST00000558013.5:c.608_609delinsAC	ENSP00000453346.1:p.His203=
ENST00000558518.5:c.608_609delinsAC	ENSP00000454071.1:p.His203=
ENST00000560467.1:c.208_209delinsAC
NM_000527.4:c.608_609delinsAC , LRG_274t1:c.608_609delinsAC	NP_000518.1:p.His203=
NM_001195798.1:c.608_609delinsAC	NP_001182727.1:p.His203=
NM_001195799.1:c.485_486delinsAC	NP_001182728.1:p.His162=
NM_001195800.1:c.314-1878_314-1877delinsAC	NP_001182729.1:n.314-1878_314-1877delinsAC
NM_001195803.1:c.314-1051_314-1050delinsAC	NP_001182732.1:n.314-1051_314-1050delinsAC
XM_011528010.1:c.608_609delinsAC	XP_011526312.1:p.His203=
XM_011528011.1:c.314-1051_314-1050delinsAC	XP_011526313.1:n.314-1051_314-1050delinsAC
XR_244074.2:n.758_759delinsAC
XM_011528010.2:c.608_609delinsAC	XP_011526312.1:p.His203=
XR_001753685.2:n.725_726delinsAC
XR_001753686.2:n.725_726delinsAC
NM_000527.5:c.608_609delinsAC MANE Select	NP_000518.1:p.His203=
NM_001195798.2:c.608_609delinsAC	NP_001182727.1:p.His203=
NM_001195799.2:c.485_486delinsAC	NP_001182728.1:p.His162=
NM_001195800.2:c.314-1878_314-1877delinsAC	NP_001182729.1:n.314-1878_314-1877delinsAC
NM_001195803.2:c.314-1051_314-1050delinsAC	NP_001182732.1:n.314-1051_314-1050delinsAC