Canonical Allele Identifier: CA2697552729
Community Standard Title: NM_000631.5(NCF4):c.367del (p.Val123CysfsTer2)
Gene: NCF4 HGNC NCBI
NCF4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36870439del , CM000684.2:g.36870439del GRCh38
NC_000022.10:g.37266481del , CM000684.1:g.37266481del GRCh37
NC_000022.9:g.35596427del NCBI36
NG_023400.1:g.14452del , LRG_159:g.14452del

Transcript Alleles

HGVS Amino-acid Change
NM_000631.5:c.367del (NCF4) MANE Select NP_000622.2:p.Val123CysfsTer2
ENST00000248899.11:c.367del (NCF4) MANE Select ENSP00000248899.6:p.Val123CysfsTer2
NM_000631.4:c.367del (NCF4) NP_000622.2:p.Val123CysfsTer2
NM_013416.3:c.367del , LRG_159t1:c.367del (NCF4) NP_038202.2:p.Val123CysfsTer2
NM_013416.4:c.367del (NCF4) NP_038202.2:p.Val123CysfsTer2
NR_147197.1:n.7del (NCF4-AS1)
ENST00000248899.10:c.367del (NCF4) ENSP00000248899.6:p.Val123CysfsTer2
ENST00000397147.6:c.367del (NCF4) ENSP00000380334.4:p.Val123CysfsTer2
ENST00000397147.7:c.367del (NCF4) ENSP00000380334.4:p.Val123CysfsTer2
ENST00000447071.5:c.58del (NCF4) ENSP00000414958.1:p.Val20CysfsTer2
ENST00000650698.1:c.58del (NCF4) ENSP00000498381.1:p.Val20CysfsTer2
ENST00000650827.1:c.58del (NCF4) ENSP00000498212.1:p.Val20CysfsTer2
ENST00000651053.1:n.672del (NCF4)
XM_011530198.1:c.541del (NCF4) XP_011528500.1:p.Val181CysfsTer2
XM_011530199.1:c.511del (NCF4) XP_011528501.1:p.Val171CysfsTer2
XM_017028808.1:c.58del (NCF4) XP_016884297.1:p.Val20CysfsTer2