Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36862343_36862355delinsGTCCACGTGGCCT , CM000684.2:g.36862343_36862355delinsGTCCACGTGGCCT	GRCh38
NC_000022.10:g.37258385_37258397delinsGTCCACGTGGCCT , CM000684.1:g.37258385_37258397delinsGTCCACGTGGCCT	GRCh37
NC_000022.9:g.35588331_35588343delinsGTCCACGTGGCCT	NCBI36
NG_023400.1:g.6356_6368delinsGTCCACGTGGCCT , LRG_159:g.6356_6368delinsGTCCACGTGGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248899.11:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4) MANE Select	ENSP00000248899.6:n.32+1140_32+1152delinsGTCCACGTGGCCT
ENST00000397147.7:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	ENSP00000380334.4:n.32+1140_32+1152delinsGTCCACGTGGCCT
ENST00000650827.1:c.-322_-310delinsGTCCACGTGGCCT (NCF4)	ENSP00000498212.1:n.-322_-310delinsGTCCACGTGGCCT
ENST00000248899.10:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	ENSP00000248899.6:n.32+1140_32+1152delinsGTCCACGTGGCCT
ENST00000397147.6:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	ENSP00000380334.4:n.32+1140_32+1152delinsGTCCACGTGGCCT
ENST00000447071.5:c.-193+1140_-193+1152delinsGTCCACGTGGCCT (NCF4)	ENSP00000414958.1:n.-193+1140_-193+1152delinsGTCCACGTGGCCT
NM_000631.4:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	NP_000622.2:n.32+1140_32+1152delinsGTCCACGTGGCCT
NM_013416.3:c.32+1140_32+1152delinsGTCCACGTGGCCT , LRG_159t1:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	NP_038202.2:n.32+1140_32+1152delinsGTCCACGTGGCCT
XM_011530198.1:c.-312_-300delinsGTCCACGTGGCCT (NCF4)	XP_011528500.1:n.-312_-300delinsGTCCACGTGGCCT
XM_011530199.1:c.97+528_97+540delinsGTCCACGTGGCCT (NCF4)	XP_011528501.1:n.97+528_97+540delinsGTCCACGTGGCCT
NR_147197.1:n.351+7738_351+7750delinsAGGCCACGTGGAC (NCF4-AS1)
XM_017028808.1:c.-278+528_-278+540delinsGTCCACGTGGCCT (NCF4)	XP_016884297.1:n.-278+528_-278+540delinsGTCCACGTGGCCT
NM_000631.5:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4) MANE Select	NP_000622.2:n.32+1140_32+1152delinsGTCCACGTGGCCT
NM_013416.4:c.32+1140_32+1152delinsGTCCACGTGGCCT (NCF4)	NP_038202.2:n.32+1140_32+1152delinsGTCCACGTGGCCT