Canonical Allele Identifier: CA2582342918
Community Standard Title: NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)
Gene: ZC4H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921824_64921826del , CM000685.2:g.64921824_64921826del GRCh38
NC_000023.10:g.64141704_64141706del , CM000685.1:g.64141704_64141706del GRCh37
NC_000023.9:g.64058429_64058431del NCBI36
NG_021200.1:g.59710_59712del
NG_021200.2:g.117921_117923del

Transcript Alleles

HGVS Amino-acid Change
NM_018684.4:c.218_220del MANE Select NP_061154.1:p.Ile73del
ENST00000374839.8:c.218_220del MANE Select ENSP00000363972.3:p.Ile73del
NM_001178032.2:c.149_151del NP_001171503.1:p.Ile50del
NM_001178032.3:c.149_151del NP_001171503.1:p.Ile50del
NM_001178033.2:c.218_220del NP_001171504.1:p.Ile73del
NM_001178033.3:c.218_220del NP_001171504.1:p.Ile73del
NM_001243804.1:c.149_151del NP_001230733.1:p.Ile50del
NM_001243804.2:c.149_151del NP_001230733.1:p.Ile50del
NM_018684.3:c.218_220del NP_061154.1:p.Ile73del
NR_045044.1:n.629_631del
NR_045044.2:n.546_548del
ENST00000337990.2:c.149_151del ENSP00000338650.2:p.Ile50del
ENST00000374839.7:c.218_220del ENSP00000363972.3:p.Ile73del
ENST00000447788.6:c.218_220del ENSP00000399126.2:p.Ile73del
ENST00000476032.1:n.459_461del
ENST00000476032.2:c.149_151del ENSP00000515193.1:p.Ile50del
ENST00000488608.5:n.374_376del
ENST00000488831.5:n.206_208del
ENST00000492653.5:n.314_316del
ENST00000492653.6:c.218_220del ENSP00000515192.1:p.Ile73del
ENST00000703133.1:c.*792_*794del ENSP00000515188.1:n.*792_*794del
ENST00000703136.1:c.*176_*178del ENSP00000515190.1:n.*176_*178del