Canonical Allele Identifier: CA2838210720
Gene: HIVEP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.41513148_41513149insAAGGGGCATGGGCCCTCTCCCTTGT , CM000663.2:g.41513148_41513149insAAGGGGCATGGGCCCTCTCCCTTGT GRCh38
NC_000001.10:g.41978819_41978820insAAGGGGCATGGGCCCTCTCCCTTGT , CM000663.1:g.41978819_41978820insAAGGGGCATGGGCCCTCTCCCTTGT GRCh37
NC_000001.9:g.41751406_41751407insAAGGGGCATGGGCCCTCTCCCTTGT NCBI36
NG_030026.1:g.527777_527778insACAAGGGAGAGGGCCCATGCCCCTT
NG_030026.2:g.527777_527778insACAAGGGAGAGGGCCCATGCCCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372583.6:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT MANE Select ENSP00000361664.1:p.Pro2025ThrfsTer?
ENST00000643665.1:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT ENSP00000494598.1:p.Pro2025ThrfsTer?
ENST00000247584.6:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT ENSP00000247584.5:p.Pro2025ThrfsTer?
ENST00000372583.5:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT ENSP00000361664.1:p.Pro2025ThrfsTer?
ENST00000372584.5:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT ENSP00000361665.1:p.Pro2025ThrfsTer?
ENST00000460604.1:n.999_1000insACAAGGGAGAGGGCCCATGCCCCTT
NM_001127714.2:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT NP_001121186.1:p.Pro2025ThrfsTer?
NM_024503.4:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT NP_078779.2:p.Pro2025ThrfsTer?
XM_006710808.2:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_006710871.1:p.Pro2025ThrfsTer?
XM_011541884.1:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_011540186.1:p.Pro2025ThrfsTer?
XM_011541884.2:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_011540186.1:p.Pro2025ThrfsTer?
XM_017001992.1:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_016857481.1:p.Pro2025ThrfsTer?
XM_017001993.2:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_016857482.1:p.Pro2025ThrfsTer?
XM_017001994.2:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_016857483.1:p.Pro2025ThrfsTer?
XM_024448789.1:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT XP_024304557.1:p.Pro2025ThrfsTer?
NM_024503.5:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT MANE Select NP_078779.2:p.Pro2025ThrfsTer?
NM_001127714.3:c.6072_6073insACAAGGGAGAGGGCCCATGCCCCTT NP_001121186.1:p.Pro2025ThrfsTer?