Canonical Allele Identifier: CA2753099795

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154510_169154520del , CM000664.2:g.169154510_169154520del	GRCh38
NC_000002.11:g.170011020_170011030del , CM000664.1:g.170011020_170011030del	GRCh37
NC_000002.10:g.169719266_169719276del	NCBI36
NG_012634.1:g.213093_213103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12235_12245del MANE Select	ENSP00000496870.1:p.Gln4079IlefsTer6
ENST00000649153.1:c.3135_3145del
ENST00000650252.1:c.1263_1273del	ENSP00000496887.1:p.Phe421LeufsTer?
ENST00000263816.7:c.12235_12245del	ENSP00000263816.3:p.Gln4079IlefsTer6
NM_004525.2:c.12235_12245del	NP_004516.2:p.Gln4079IlefsTer6
XM_011511183.1:c.12106_12116del	XP_011509485.1:p.Gln4036IlefsTer6
XM_011511184.1:c.9946_9956del	XP_011509486.1:p.Gln3316IlefsTer6
NM_004525.3:c.12235_12245del MANE Select	NP_004516.2:p.Gln4079IlefsTer6
XM_011511183.3:c.12106_12116del	XP_011509485.1:p.Gln4036IlefsTer6
XM_011511184.2:c.9946_9956del	XP_011509486.1:p.Gln3316IlefsTer6