Canonical Allele Identifier: CA2971637271
Gene: LRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169128963del , CM000664.2:g.169128963del GRCh38
NC_000002.11:g.169985473del , CM000664.1:g.169985473del GRCh37
NC_000002.10:g.169693719del NCBI36
NG_012634.1:g.238652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.13800+52del MANE Select ENSP00000496870.1:n.13800+52del
ENST00000649153.1:c.4609+52del
ENST00000650252.1:c.2791+52del ENSP00000496887.1:n.2791+52del
ENST00000263816.7:c.13800+52del ENSP00000263816.3:n.13800+52del
NM_004525.2:c.13800+52del NP_004516.2:n.13800+52del
XM_011511183.1:c.13671+52del XP_011509485.1:n.13671+52del
XM_011511184.1:c.11511+52del XP_011509486.1:n.11511+52del
NM_004525.3:c.13800+52del MANE Select NP_004516.2:n.13800+52del
XM_011511183.3:c.13671+52del XP_011509485.1:n.13671+52del
XM_011511184.2:c.11511+52del XP_011509486.1:n.11511+52del