Canonical Allele Identifier: CA2768670701

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573826_141573827insG , CM000667.2:g.141573826_141573827insG	GRCh38
NC_000005.9:g.140953393_140953394insG , CM000667.1:g.140953393_140953394insG	GRCh37
NC_000005.8:g.140933577_140933578insG	NCBI36
NG_011594.1:g.50229_50230insC
NG_011594.2:g.50229_50230insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2023_2024insC MANE Select	ENSP00000373706.4:p.Ile675ThrfsTer12
ENST00000647433.1:c.2023_2024insC	ENSP00000494675.1:p.Ile675ThrfsTer12
ENST00000253811.10:c.1891_1892insC	ENSP00000253811.7:p.Ile631ThrfsTer12
ENST00000389054.7:c.2023_2024insC	ENSP00000373706.4:p.Ile675ThrfsTer12
ENST00000389057.9:c.1996_1997insC	ENSP00000373709.6:p.Ile666ThrfsTer12
ENST00000398557.8:c.2023_2024insC	ENSP00000381565.5:p.Ile675ThrfsTer12
ENST00000518047.5:c.1996_1997insC	ENSP00000428268.2:p.Ile666ThrfsTer12
NM_001079812.2:c.1996_1997insC	NP_001073280.1:p.Ile666ThrfsTer12
NM_001314007.1:c.2023_2024insC	NP_001300936.1:p.Ile675ThrfsTer12
NM_005219.4:c.2023_2024insC	NP_005210.3:p.Ile675ThrfsTer12
XM_011537572.1:c.1987_1988insC	XP_011535874.1:p.Ile663ThrfsTer12
XM_011537573.1:c.1957_1958insC	XP_011535875.1:p.Ile653ThrfsTer12
XM_024454384.1:c.2023_2024insC	XP_024310152.1:p.Ile675ThrfsTer12
XM_024454385.1:c.1996_1997insC	XP_024310153.1:p.Ile666ThrfsTer12
XM_024454386.1:c.1987_1988insC	XP_024310154.1:p.Ile663ThrfsTer12
XM_024454387.1:c.1957_1958insC	XP_024310155.1:p.Ile653ThrfsTer12
NM_005219.5:c.2023_2024insC MANE Select	NP_005210.3:p.Ile675ThrfsTer12
NM_001079812.3:c.1996_1997insC	NP_001073280.1:p.Ile666ThrfsTer12
NM_001314007.2:c.2023_2024insC	NP_001300936.1:p.Ile675ThrfsTer12