Canonical Allele Identifier: CA3789792

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38870534_38870540del , CM000668.2:g.38870534_38870540del	GRCh38
NC_000006.11:g.38838310_38838316del , CM000668.1:g.38838310_38838316del	GRCh37
NC_000006.10:g.38946288_38946294del	NCBI36
NG_041805.1:g.160194_160200del

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.6962_6968del MANE Select	NP_001193856.1:p.His2321ProfsTer4
ENST00000327475.11:c.6962_6968del MANE Select	ENSP00000333363.7:p.His2321ProfsTer4
NM_001206927.1:c.6962_6968del	NP_001193856.1:p.His2321ProfsTer4
NM_001371.3:c.6311_6317del	NP_001362.2:p.His2104ProfsTer4
NM_001371.4:c.6311_6317del	NP_001362.2:p.His2104ProfsTer4
ENST00000327475.10:c.6962_6968del	ENSP00000333363.7:p.His2321ProfsTer4
ENST00000359357.7:c.6311_6317del	ENSP00000352312.3:p.His2104ProfsTer4
ENST00000449981.6:c.6962_6968del	ENSP00000415331.2:p.His2321ProfsTer4
XM_011514318.1:c.6899_6905del	XP_011512620.1:p.His2300ProfsTer4
XM_011514318.2:c.6899_6905del	XP_011512620.1:p.His2300ProfsTer4
XM_011514319.1:c.6854_6860del	XP_011512621.1:p.His2285ProfsTer4
XM_011514319.2:c.6854_6860del	XP_011512621.1:p.His2285ProfsTer4
XM_011514320.1:c.6725_6731del	XP_011512622.1:p.His2242ProfsTer4
XM_011514320.2:c.6725_6731del	XP_011512622.1:p.His2242ProfsTer4
XM_011514321.1:c.6311_6317del	XP_011512623.1:p.His2104ProfsTer4
XM_011514322.1:c.6962_6968del	XP_011512624.1:p.His2321ProfsTer4
XM_017010325.1:c.6962_6968del	XP_016865814.1:p.His2321ProfsTer4
XM_017010326.1:c.6962_6968del	XP_016865815.1:p.His2321ProfsTer4
XM_017010327.1:c.6962_6968del	XP_016865816.1:p.His2321ProfsTer4
XR_001743188.1:n.7083_7089del
XR_926078.1:n.7079_7085del
XR_926078.2:n.7082_7088del