Canonical Allele Identifier: CA2770639085
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805920dup , CM000668.2:g.35805920dup GRCh38
NC_000006.11:g.35773697dup , CM000668.1:g.35773697dup GRCh37
NC_000006.10:g.35881675dup NCBI36
NG_012184.1:g.5627dup
NG_012184.2:g.5627dup
NG_012184.3:g.13715dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.250dup MANE Select ENSP00000353346.1:p.Leu84ProfsTer9
ENST00000651132.1:c.250dup ENSP00000498322.1:p.Leu84ProfsTer9
ENST00000651676.1:c.250dup ENSP00000498699.1:p.Leu84ProfsTer9
ENST00000651994.1:c.250dup ENSP00000498310.1:p.Leu84ProfsTer9
ENST00000652718.1:c.82dup ENSP00000498866.1:p.Leu28ProfsTer9
ENST00000360215.2:c.250dup ENSP00000353346.1:p.Leu84ProfsTer9
NM_182548.3:c.250dup NP_872354.1:p.Leu84ProfsTer9
XM_011514403.1:c.250dup XP_011512705.1:p.Leu84ProfsTer9
NM_182548.4:c.250dup MANE Select NP_872354.1:p.Leu84ProfsTer9