Canonical Allele Identifier: CA1587247778

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573877_141573879delinsGGC , CM000667.2:g.141573877_141573879delinsGGC	GRCh38
NC_000005.9:g.140953444_140953446delinsGGC , CM000667.1:g.140953444_140953446delinsGGC	GRCh37
NC_000005.8:g.140933628_140933630delinsGGC	NCBI36
NG_011594.1:g.50177_50179delinsGCC
NG_011594.2:g.50177_50179delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1971_1973delinsGCC MANE Select	ENSP00000373706.4:p.Leu657=
ENST00000647433.1:c.1971_1973delinsGCC	ENSP00000494675.1:p.Leu657=
ENST00000253811.10:c.1839_1841delinsGCC	ENSP00000253811.7:p.Leu613=
ENST00000389054.7:c.1971_1973delinsGCC	ENSP00000373706.4:p.Leu657=
ENST00000389057.9:c.1944_1946delinsGCC	ENSP00000373709.6:p.Leu648=
ENST00000398557.8:c.1971_1973delinsGCC	ENSP00000381565.5:p.Leu657=
ENST00000518047.5:c.1944_1946delinsGCC	ENSP00000428268.2:p.Leu648=
NM_001079812.2:c.1944_1946delinsGCC	NP_001073280.1:p.Leu648=
NM_001314007.1:c.1971_1973delinsGCC	NP_001300936.1:p.Leu657=
NM_005219.4:c.1971_1973delinsGCC	NP_005210.3:p.Leu657=
XM_011537572.1:c.1935_1937delinsGCC	XP_011535874.1:p.Leu645=
XM_011537573.1:c.1905_1907delinsGCC	XP_011535875.1:p.Leu635=
XM_024454384.1:c.1971_1973delinsGCC	XP_024310152.1:p.Leu657=
XM_024454385.1:c.1944_1946delinsGCC	XP_024310153.1:p.Leu648=
XM_024454386.1:c.1935_1937delinsGCC	XP_024310154.1:p.Leu645=
XM_024454387.1:c.1905_1907delinsGCC	XP_024310155.1:p.Leu635=
NM_005219.5:c.1971_1973delinsGCC MANE Select	NP_005210.3:p.Leu657=
NM_001079812.3:c.1944_1946delinsGCC	NP_001073280.1:p.Leu648=
NM_001314007.2:c.1971_1973delinsGCC	NP_001300936.1:p.Leu657=