Canonical Allele Identifier: CA2582342917
Community Standard Title: NM_018684.4(ZC4H2):c.388del (p.Leu130PhefsTer?)
Gene: ZC4H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64920091del , CM000685.2:g.64920091del GRCh38
NC_000023.10:g.64139971del , CM000685.1:g.64139971del GRCh37
NC_000023.9:g.64056696del NCBI36
NG_021200.1:g.61443del
NG_021200.2:g.119654del

Transcript Alleles

HGVS Amino-acid Change
NM_018684.4:c.388del MANE Select NP_061154.1:p.Leu130PhefsTer?
ENST00000374839.8:c.388del MANE Select ENSP00000363972.3:p.Leu130PhefsTer?
NM_001178032.2:c.319del NP_001171503.1:p.Leu107PhefsTer?
NM_001178032.3:c.319del NP_001171503.1:p.Leu107PhefsTer?
NM_001178033.2:c.388del NP_001171504.1:p.Leu130PhefsTer?
NM_001178033.3:c.388del NP_001171504.1:p.Leu130PhefsTer?
NM_001243804.1:c.319del NP_001230733.1:p.Leu107PhefsTer?
NM_001243804.2:c.319del NP_001230733.1:p.Leu107PhefsTer?
NM_018684.3:c.388del NP_061154.1:p.Leu130PhefsTer?
NR_045044.1:n.799del
NR_045044.2:n.716del
ENST00000337990.2:c.319del ENSP00000338650.2:p.Leu107PhefsTer?
ENST00000374839.7:c.388del ENSP00000363972.3:p.Leu130PhefsTer?
ENST00000447788.6:c.388del ENSP00000399126.2:p.Leu130PhefsTer?
ENST00000476032.1:n.629del
ENST00000476032.2:c.319del ENSP00000515193.1:p.Leu107PhefsTer?
ENST00000488406.1:n.37del
ENST00000488608.5:n.544del
ENST00000488831.5:n.376del
ENST00000492653.5:n.484del
ENST00000492653.6:c.388del ENSP00000515192.1:p.Leu130PhefsTer5
ENST00000703133.1:c.*962del ENSP00000515188.1:n.*962del
ENST00000703136.1:c.*346del ENSP00000515190.1:n.*346del