Canonical Allele Identifier: CA2675691751

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573821-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573821_141573822insA , CM000667.2:g.141573821_141573822insA	GRCh38
NC_000005.9:g.140953388_140953389insA , CM000667.1:g.140953388_140953389insA	GRCh37
NC_000005.8:g.140933572_140933573insA	NCBI36
NG_011594.1:g.50234_50235insT
NG_011594.2:g.50234_50235insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2028_2029insT MANE Select	ENSP00000373706.4:p.Pro677SerfsTer10
ENST00000647433.1:c.2028_2029insT	ENSP00000494675.1:p.Pro677SerfsTer10
ENST00000253811.10:c.1896_1897insT	ENSP00000253811.7:p.Pro633SerfsTer10
ENST00000389054.7:c.2028_2029insT	ENSP00000373706.4:p.Pro677SerfsTer10
ENST00000389057.9:c.2001_2002insT	ENSP00000373709.6:p.Pro668SerfsTer10
ENST00000398557.8:c.2028_2029insT	ENSP00000381565.5:p.Pro677SerfsTer10
ENST00000518047.5:c.2001_2002insT	ENSP00000428268.2:p.Pro668SerfsTer10
NM_001079812.2:c.2001_2002insT	NP_001073280.1:p.Pro668SerfsTer10
NM_001314007.1:c.2028_2029insT	NP_001300936.1:p.Pro677SerfsTer10
NM_005219.4:c.2028_2029insT	NP_005210.3:p.Pro677SerfsTer10
XM_011537572.1:c.1992_1993insT	XP_011535874.1:p.Pro665SerfsTer10
XM_011537573.1:c.1962_1963insT	XP_011535875.1:p.Pro655SerfsTer10
XM_024454384.1:c.2028_2029insT	XP_024310152.1:p.Pro677SerfsTer10
XM_024454385.1:c.2001_2002insT	XP_024310153.1:p.Pro668SerfsTer10
XM_024454386.1:c.1992_1993insT	XP_024310154.1:p.Pro665SerfsTer10
XM_024454387.1:c.1962_1963insT	XP_024310155.1:p.Pro655SerfsTer10
NM_005219.5:c.2028_2029insT MANE Select	NP_005210.3:p.Pro677SerfsTer10
NM_001079812.3:c.2001_2002insT	NP_001073280.1:p.Pro668SerfsTer10
NM_001314007.2:c.2028_2029insT	NP_001300936.1:p.Pro677SerfsTer10