Canonical Allele Identifier: CA2578626543
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814548del , CM000668.2:g.35814548del GRCh38
NC_000006.11:g.35782325del , CM000668.1:g.35782325del GRCh37
NC_000006.10:g.35890303del NCBI36
NG_012184.1:g.14255del
NG_012184.2:g.14255del
NG_012184.3:g.22343del

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.415del MANE Select ENSP00000353346.1:p.Thr139GlnfsTer3
ENST00000496656.2:n.194del
ENST00000651132.1:c.415del ENSP00000498322.1:p.Thr139GlnfsTer3
ENST00000651676.1:c.415del ENSP00000498699.1:p.Thr139GlnfsTer3
ENST00000651994.1:c.*70-4889del ENSP00000498310.1:n.*70-4889del
ENST00000652718.1:c.247del ENSP00000498866.1:p.Thr83GlnfsTer3
ENST00000360215.2:c.415del ENSP00000353346.1:p.Thr139GlnfsTer3
ENST00000496656.1:n.194del
NM_182548.3:c.415del NP_872354.1:p.Thr139GlnfsTer3
XM_011514403.1:c.415del XP_011512705.1:p.Thr139GlnfsTer3
NM_182548.4:c.415del MANE Select NP_872354.1:p.Thr139GlnfsTer3