Canonical Allele Identifier: CA1587247870

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573910_141573914delinsCCAGA , CM000667.2:g.141573910_141573914delinsCCAGA	GRCh38
NC_000005.9:g.140953477_140953481delinsCCAGA , CM000667.1:g.140953477_140953481delinsCCAGA	GRCh37
NC_000005.8:g.140933661_140933665delinsCCAGA	NCBI36
NG_011594.1:g.50142_50146delinsTCTGG
NG_011594.2:g.50142_50146delinsTCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1936_1940delinsTCTGG MANE Select	ENSP00000373706.4:p.Ser646=
ENST00000647433.1:c.1936_1940delinsTCTGG	ENSP00000494675.1:p.Ser646=
ENST00000253811.10:c.1804_1808delinsTCTGG	ENSP00000253811.7:p.Ser602=
ENST00000389054.7:c.1936_1940delinsTCTGG	ENSP00000373706.4:p.Ser646=
ENST00000389057.9:c.1909_1913delinsTCTGG	ENSP00000373709.6:p.Ser637=
ENST00000398557.8:c.1936_1940delinsTCTGG	ENSP00000381565.5:p.Ser646=
ENST00000518047.5:c.1909_1913delinsTCTGG	ENSP00000428268.2:p.Ser637=
NM_001079812.2:c.1909_1913delinsTCTGG	NP_001073280.1:p.Ser637=
NM_001314007.1:c.1936_1940delinsTCTGG	NP_001300936.1:p.Ser646=
NM_005219.4:c.1936_1940delinsTCTGG	NP_005210.3:p.Ser646=
XM_011537572.1:c.1900_1904delinsTCTGG	XP_011535874.1:p.Ser634=
XM_011537573.1:c.1870_1874delinsTCTGG	XP_011535875.1:p.Ser624=
XM_024454384.1:c.1936_1940delinsTCTGG	XP_024310152.1:p.Ser646=
XM_024454385.1:c.1909_1913delinsTCTGG	XP_024310153.1:p.Ser637=
XM_024454386.1:c.1900_1904delinsTCTGG	XP_024310154.1:p.Ser634=
XM_024454387.1:c.1870_1874delinsTCTGG	XP_024310155.1:p.Ser624=
NM_005219.5:c.1936_1940delinsTCTGG MANE Select	NP_005210.3:p.Ser646=
NM_001079812.3:c.1909_1913delinsTCTGG	NP_001073280.1:p.Ser637=
NM_001314007.2:c.1936_1940delinsTCTGG	NP_001300936.1:p.Ser646=