Canonical Allele Identifier: CA1621066450
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1768727907

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814665_35814677del , CM000668.2:g.35814665_35814677del GRCh38
NC_000006.11:g.35782442_35782454del , CM000668.1:g.35782442_35782454del GRCh37
NC_000006.10:g.35890420_35890432del NCBI36
NG_012184.1:g.14372_14384del
NG_012184.2:g.14372_14384del
NG_012184.3:g.22460_22472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.532_544del MANE Select ENSP00000353346.1:p.Ala178ProfsTer?
ENST00000496656.2:n.311_323del
ENST00000651132.1:c.532_544del ENSP00000498322.1:p.Ala178ProfsTer?
ENST00000651676.1:c.532_544del ENSP00000498699.1:p.Ala178ProfsTer?
ENST00000651994.1:c.*70-4772_*70-4760del ENSP00000498310.1:n.*70-4772_*70-4760del
ENST00000652718.1:c.364_376del ENSP00000498866.1:p.Ala122ProfsTer?
ENST00000360215.2:c.532_544del ENSP00000353346.1:p.Ala178ProfsTer?
ENST00000496656.1:n.311_323del
NM_182548.3:c.532_544del NP_872354.1:p.Ala178ProfsTer?
XM_011514403.1:c.532_544del XP_011512705.1:p.Ala178ProfsTer?
NM_182548.4:c.532_544del MANE Select NP_872354.1:p.Ala178ProfsTer?