Canonical Allele Identifier: CA2580101267
Community Standard Title: NM_018684.4(ZC4H2):c.290_292del (p.Leu97del)
Gene: ZC4H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64920189_64920191del , CM000685.2:g.64920189_64920191del GRCh38
NC_000023.10:g.64140069_64140071del , CM000685.1:g.64140069_64140071del GRCh37
NC_000023.9:g.64056794_64056796del NCBI36
NG_021200.1:g.61345_61347del
NG_021200.2:g.119556_119558del

Transcript Alleles

HGVS Amino-acid Change
NM_018684.4:c.290_292del MANE Select NP_061154.1:p.Leu97del
ENST00000374839.8:c.290_292del MANE Select ENSP00000363972.3:p.Leu97del
NM_001178032.2:c.221_223del NP_001171503.1:p.Leu74del
NM_001178032.3:c.221_223del NP_001171503.1:p.Leu74del
NM_001178033.2:c.290_292del NP_001171504.1:p.Leu97del
NM_001178033.3:c.290_292del NP_001171504.1:p.Leu97del
NM_001243804.1:c.221_223del NP_001230733.1:p.Leu74del
NM_001243804.2:c.221_223del NP_001230733.1:p.Leu74del
NM_018684.3:c.290_292del NP_061154.1:p.Leu97del
NR_045044.1:n.701_703del
NR_045044.2:n.618_620del
ENST00000337990.2:c.221_223del ENSP00000338650.2:p.Leu74del
ENST00000374839.7:c.290_292del ENSP00000363972.3:p.Leu97del
ENST00000447788.6:c.290_292del ENSP00000399126.2:p.Leu97del
ENST00000476032.1:n.531_533del
ENST00000476032.2:c.221_223del ENSP00000515193.1:p.Leu74del
ENST00000488608.5:n.446_448del
ENST00000488831.5:n.278_280del
ENST00000492653.5:n.386_388del
ENST00000492653.6:c.290_292del ENSP00000515192.1:p.Leu97del
ENST00000703133.1:c.*864_*866del ENSP00000515188.1:n.*864_*866del
ENST00000703136.1:c.*248_*250del ENSP00000515190.1:n.*248_*250del