Canonical Allele Identifier: CA8277061

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2036883dup , CM000679.2:g.2036883dup	GRCh38
NC_000017.10:g.1940177dup , CM000679.1:g.1940177dup	GRCh37
NC_000017.9:g.1886927dup	NCBI36
NG_051946.1:g.11772dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.607dup MANE Select	NP_001374.4:p.Cys203LeufsTer?
ENST00000263083.12:c.607dup MANE Select	ENSP00000263083.7:p.Cys203LeufsTer?
NM_001346574.1:c.622dup	NP_001333503.1:p.Cys208LeufsTer?
NM_001346575.1:c.589dup	NP_001333504.1:p.Cys197LeufsTer?
NM_001346576.1:c.202dup	NP_001333505.1:p.Cys68LeufsTer?
NM_001346576.2:c.202dup	NP_001333505.1:p.Cys68LeufsTer?
NM_001383.3:c.622dup	NP_001374.3:p.Cys208LeufsTer?
NM_001383.4:c.622dup	NP_001374.3:p.Cys208LeufsTer?
NM_001383.5:c.607dup	NP_001374.4:p.Cys203LeufsTer?
NR_144474.1:n.665dup
NR_144474.2:n.624dup
NR_144475.1:n.632dup
NR_144475.2:n.591dup
NR_144476.1:n.665dup
NR_144476.2:n.624dup
ENST00000263083.10:c.622dup	ENSP00000263083.6:p.Cys208LeufsTer?
ENST00000570477.5:c.382dup	ENSP00000458726.1:p.Cys128LeufsTer?
ENST00000570477.6:c.382dup	ENSP00000458726.1:p.Cys128LeufsTer?
ENST00000570833.5:c.452dup	ENSP00000467936.1:n.452dup
ENST00000571418.5:c.585dup
ENST00000571418.7:c.574dup	ENSP00000458838.2:p.Cys192LeufsTer?
ENST00000572819.6:n.1047dup
ENST00000575667.5:c.496dup
ENST00000575667.6:c.496dup
ENST00000576129.5:n.591dup
ENST00000576891.2:n.464dup
ENST00000674200.2:c.622dup	ENSP00000501368.1:p.Cys208LeufsTer?