Canonical Allele Identifier: CA672895900
Gene: HEPACAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124922759del , CM000673.2:g.124922759del GRCh38
NC_000011.9:g.124792655del , CM000673.1:g.124792655del GRCh37
NC_000011.8:g.124297865del NCBI36
NG_029603.1:g.18654del

Transcript Alleles

HGVS Amino-acid Change
NM_152722.5:c.863del MANE Select NP_689935.2:p.Arg288ProfsTer2
ENST00000298251.5:c.863del MANE Select ENSP00000298251.4:p.Arg288ProfsTer2
NM_152722.4:c.863del NP_689935.2:p.Arg288ProfsTer2
ENST00000298251.4:c.863del ENSP00000298251.4:p.Arg288ProfsTer2
ENST00000703807.1:c.863del ENSP00000515485.1:p.Arg288ProfsTer2
XM_005271449.1:c.863del XP_005271506.1:p.Arg288ProfsTer2
XM_005271449.2:c.863del XP_005271506.1:p.Arg288ProfsTer2
XM_006718786.1:c.884del XP_006718849.1:p.Arg295ProfsTer2
XM_011542669.1:c.884del XP_011540971.1:p.Arg295ProfsTer2
XM_017017361.1:c.863del XP_016872850.1:p.Arg288ProfsTer2
XR_001748429.2:n.325-20641del