Canonical Allele Identifier: CA1139659506

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38723189_38723190del , CM000668.2:g.38723189_38723190del	GRCh38
NC_000006.11:g.38690965_38690966del , CM000668.1:g.38690965_38690966del	GRCh37
NC_000006.10:g.38798943_38798944del	NCBI36
NG_041805.1:g.12849_12850del

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.380_381del MANE Select	NP_001193856.1:p.Lys127ArgfsTer7
ENST00000327475.11:c.380_381del MANE Select	ENSP00000333363.7:p.Lys127ArgfsTer7
NM_001206927.1:c.380_381del	NP_001193856.1:p.Lys127ArgfsTer7
NM_001371.3:c.-187_-186del	NP_001362.2:n.-187_-186del
NM_001371.4:c.-187_-186del	NP_001362.2:n.-187_-186del
ENST00000327475.10:c.380_381del	ENSP00000333363.7:p.Lys127ArgfsTer7
ENST00000359357.7:c.-187_-186del	ENSP00000352312.3:n.-187_-186del
ENST00000373278.8:c.380_381del	ENSP00000362375.4:p.Lys127ArgfsTer7
ENST00000449981.6:c.380_381del	ENSP00000415331.2:p.Lys127ArgfsTer7
XM_011514318.1:c.380_381del	XP_011512620.1:p.Lys127ArgfsTer7
XM_011514318.2:c.380_381del	XP_011512620.1:p.Lys127ArgfsTer7
XM_011514319.1:c.380_381del	XP_011512621.1:p.Lys127ArgfsTer7
XM_011514319.2:c.380_381del	XP_011512621.1:p.Lys127ArgfsTer7
XM_011514320.1:c.380_381del	XP_011512622.1:p.Lys127ArgfsTer7
XM_011514320.2:c.380_381del	XP_011512622.1:p.Lys127ArgfsTer7
XM_011514322.1:c.380_381del	XP_011512624.1:p.Lys127ArgfsTer7
XM_017010325.1:c.380_381del	XP_016865814.1:p.Lys127ArgfsTer7
XM_017010326.1:c.380_381del	XP_016865815.1:p.Lys127ArgfsTer7
XM_017010327.1:c.380_381del	XP_016865816.1:p.Lys127ArgfsTer7
XR_001743188.1:n.501_502del
XR_926078.1:n.497_498del
XR_926078.2:n.500_501del