Canonical Allele Identifier: CA2753103727

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247492_169247498del , CM000664.2:g.169247492_169247498del	GRCh38
NC_000002.11:g.170104002_170104008del , CM000664.1:g.170104002_170104008del	GRCh37
NC_000002.10:g.169812248_169812254del	NCBI36
NG_012634.1:g.120121_120127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2794_2800del MANE Select	ENSP00000496870.1:p.Arg932ValfsTer14
ENST00000263816.7:c.2794_2800del	ENSP00000263816.3:p.Arg932ValfsTer14
ENST00000443831.1:c.2383_2389del	ENSP00000409813.1:p.Arg795ValfsTer14
NM_004525.2:c.2794_2800del	NP_004516.2:p.Arg932ValfsTer14
XM_011511183.1:c.2794_2800del	XP_011509485.1:p.Arg932ValfsTer14
XM_011511184.1:c.505_511del	XP_011509486.1:p.Arg169ValfsTer14
XM_011511185.1:c.2794_2800del	XP_011509487.1:p.Arg932ValfsTer14
NM_004525.3:c.2794_2800del MANE Select	NP_004516.2:p.Arg932ValfsTer14
XM_011511183.3:c.2794_2800del	XP_011509485.1:p.Arg932ValfsTer14
XM_011511184.2:c.505_511del	XP_011509486.1:p.Arg169ValfsTer14