Canonical Allele Identifier: CA2578626544
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814727del , CM000668.2:g.35814727del GRCh38
NC_000006.11:g.35782504del , CM000668.1:g.35782504del GRCh37
NC_000006.10:g.35890482del NCBI36
NG_012184.1:g.14434del
NG_012184.2:g.14434del
NG_012184.3:g.22522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.594del MANE Select ENSP00000353346.1:p.Leu199TrpfsTer?
ENST00000496656.2:n.373del
ENST00000651132.1:c.594del ENSP00000498322.1:p.Leu199TrpfsTer?
ENST00000651676.1:c.594del ENSP00000498699.1:p.Leu199TrpfsTer?
ENST00000651994.1:c.*70-4710del ENSP00000498310.1:n.*70-4710del
ENST00000652718.1:c.426del ENSP00000498866.1:p.Leu143TrpfsTer?
ENST00000360215.2:c.594del ENSP00000353346.1:p.Leu199TrpfsTer?
ENST00000496656.1:n.373del
NM_182548.3:c.594del NP_872354.1:p.Leu199TrpfsTer?
XM_011514403.1:c.594del XP_011512705.1:p.Leu199TrpfsTer?
NM_182548.4:c.594del MANE Select NP_872354.1:p.Leu199TrpfsTer?