Canonical Allele Identifier: CA2675691747

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573800-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573802_141573803del , CM000667.2:g.141573802_141573803del	GRCh38
NC_000005.9:g.140953369_140953370del , CM000667.1:g.140953369_140953370del	GRCh37
NC_000005.8:g.140933553_140933554del	NCBI36
NG_011594.1:g.50254_50255del
NG_011594.2:g.50254_50255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2048_2049del MANE Select	ENSP00000373706.4:p.Gly683GlufsTer3
ENST00000647433.1:c.2048_2049del	ENSP00000494675.1:p.Gly683GlufsTer3
ENST00000253811.10:c.1916_1917del	ENSP00000253811.7:p.Gly639GlufsTer3
ENST00000389054.7:c.2048_2049del	ENSP00000373706.4:p.Gly683GlufsTer3
ENST00000389057.9:c.2021_2022del	ENSP00000373709.6:p.Gly674GlufsTer3
ENST00000398557.8:c.2048_2049del	ENSP00000381565.5:p.Gly683GlufsTer3
ENST00000518047.5:c.2021_2022del	ENSP00000428268.2:p.Gly674GlufsTer3
NM_001079812.2:c.2021_2022del	NP_001073280.1:p.Gly674GlufsTer3
NM_001314007.1:c.2048_2049del	NP_001300936.1:p.Gly683GlufsTer3
NM_005219.4:c.2048_2049del	NP_005210.3:p.Gly683GlufsTer3
XM_011537572.1:c.2012_2013del	XP_011535874.1:p.Gly671GlufsTer3
XM_011537573.1:c.1982_1983del	XP_011535875.1:p.Gly661GlufsTer3
XM_024454384.1:c.2048_2049del	XP_024310152.1:p.Gly683GlufsTer3
XM_024454385.1:c.2021_2022del	XP_024310153.1:p.Gly674GlufsTer3
XM_024454386.1:c.2012_2013del	XP_024310154.1:p.Gly671GlufsTer3
XM_024454387.1:c.1982_1983del	XP_024310155.1:p.Gly661GlufsTer3
NM_005219.5:c.2048_2049del MANE Select	NP_005210.3:p.Gly683GlufsTer3
NM_001079812.3:c.2021_2022del	NP_001073280.1:p.Gly674GlufsTer3
NM_001314007.2:c.2048_2049del	NP_001300936.1:p.Gly683GlufsTer3