Canonical Allele Identifier: CA1587247721

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573844_141573847delinsAAAG , CM000667.2:g.141573844_141573847delinsAAAG	GRCh38
NC_000005.9:g.140953411_140953414delinsAAAG , CM000667.1:g.140953411_140953414delinsAAAG	GRCh37
NC_000005.8:g.140933595_140933598delinsAAAG	NCBI36
NG_011594.1:g.50209_50212delinsCTTT
NG_011594.2:g.50209_50212delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2003_2006delinsCTTT MANE Select	ENSP00000373706.4:p.Ser668=
ENST00000647433.1:c.2003_2006delinsCTTT	ENSP00000494675.1:p.Ser668=
ENST00000253811.10:c.1871_1874delinsCTTT	ENSP00000253811.7:p.Ser624=
ENST00000389054.7:c.2003_2006delinsCTTT	ENSP00000373706.4:p.Ser668=
ENST00000389057.9:c.1976_1979delinsCTTT	ENSP00000373709.6:p.Ser659=
ENST00000398557.8:c.2003_2006delinsCTTT	ENSP00000381565.5:p.Ser668=
ENST00000518047.5:c.1976_1979delinsCTTT	ENSP00000428268.2:p.Ser659=
NM_001079812.2:c.1976_1979delinsCTTT	NP_001073280.1:p.Ser659=
NM_001314007.1:c.2003_2006delinsCTTT	NP_001300936.1:p.Ser668=
NM_005219.4:c.2003_2006delinsCTTT	NP_005210.3:p.Ser668=
XM_011537572.1:c.1967_1970delinsCTTT	XP_011535874.1:p.Ser656=
XM_011537573.1:c.1937_1940delinsCTTT	XP_011535875.1:p.Ser646=
XM_024454384.1:c.2003_2006delinsCTTT	XP_024310152.1:p.Ser668=
XM_024454385.1:c.1976_1979delinsCTTT	XP_024310153.1:p.Ser659=
XM_024454386.1:c.1967_1970delinsCTTT	XP_024310154.1:p.Ser656=
XM_024454387.1:c.1937_1940delinsCTTT	XP_024310155.1:p.Ser646=
NM_005219.5:c.2003_2006delinsCTTT MANE Select	NP_005210.3:p.Ser668=
NM_001079812.3:c.1976_1979delinsCTTT	NP_001073280.1:p.Ser659=
NM_001314007.2:c.2003_2006delinsCTTT	NP_001300936.1:p.Ser668=