Canonical Allele Identifier: CA2793985488
Gene: HEPN1 HGNC NCBI
HEPACAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124919846_124919848del , CM000673.2:g.124919846_124919848del GRCh38
NC_000011.9:g.124789742_124789744del , CM000673.1:g.124789742_124789744del GRCh37
NC_000011.8:g.124294952_124294954del NCBI36
NG_029603.1:g.21565_21567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408930.7:c.96_98del (HEPN1) MANE Select ENSP00000386143.4:p.Arg33del
ENST00000703807.1:c.*1290_*1292del (HEPACAM) ENSP00000515485.1:n.*1290_*1292del
ENST00000298251.5:c.*1290_*1292del (HEPACAM) MANE Select ENSP00000298251.4:n.*1290_*1292del
ENST00000298251.4:c.*1290_*1292del (HEPACAM) ENSP00000298251.4:n.*1290_*1292del
ENST00000408930.6:c.96_98del (HEPN1) ENSP00000386143.4:p.Arg33del
NM_001037558.2:c.96_98del (HEPN1) NP_001032647.2:p.Arg33del
NM_152722.4:c.*1290_*1292del (HEPACAM) NP_689935.2:n.*1290_*1292del
XM_005271449.1:c.*1290_*1292del (HEPACAM) XP_005271506.1:n.*1290_*1292del
XM_006718786.1:c.*1290_*1292del (HEPACAM) XP_006718849.1:n.*1290_*1292del
XM_011542669.1:c.*1290_*1292del (HEPACAM) XP_011540971.1:n.*1290_*1292del
XM_005271449.2:c.*1290_*1292del (HEPACAM) XP_005271506.1:n.*1290_*1292del
XM_017017361.1:c.*1290_*1292del (HEPACAM) XP_016872850.1:n.*1290_*1292del
XR_001748429.2:n.325-23554_325-23552del
NM_152722.5:c.*1290_*1292del (HEPACAM) MANE Select NP_689935.2:n.*1290_*1292del
NR_170124.1:n.572_574del (HEPN1)