Canonical Allele Identifier: CA2675691750

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573819-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573825dup , CM000667.2:g.141573825dup	GRCh38
NC_000005.9:g.140953392dup , CM000667.1:g.140953392dup	GRCh37
NC_000005.8:g.140933576dup	NCBI36
NG_011594.1:g.50236dup
NG_011594.2:g.50236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2030dup MANE Select	ENSP00000373706.4:p.Pro678ThrfsTer9
ENST00000647433.1:c.2030dup	ENSP00000494675.1:p.Pro678ThrfsTer9
ENST00000253811.10:c.1898dup	ENSP00000253811.7:p.Pro634ThrfsTer9
ENST00000389054.7:c.2030dup	ENSP00000373706.4:p.Pro678ThrfsTer9
ENST00000389057.9:c.2003dup	ENSP00000373709.6:p.Pro669ThrfsTer9
ENST00000398557.8:c.2030dup	ENSP00000381565.5:p.Pro678ThrfsTer9
ENST00000518047.5:c.2003dup	ENSP00000428268.2:p.Pro669ThrfsTer9
NM_001079812.2:c.2003dup	NP_001073280.1:p.Pro669ThrfsTer9
NM_001314007.1:c.2030dup	NP_001300936.1:p.Pro678ThrfsTer9
NM_005219.4:c.2030dup	NP_005210.3:p.Pro678ThrfsTer9
XM_011537572.1:c.1994dup	XP_011535874.1:p.Pro666ThrfsTer9
XM_011537573.1:c.1964dup	XP_011535875.1:p.Pro656ThrfsTer9
XM_024454384.1:c.2030dup	XP_024310152.1:p.Pro678ThrfsTer9
XM_024454385.1:c.2003dup	XP_024310153.1:p.Pro669ThrfsTer9
XM_024454386.1:c.1994dup	XP_024310154.1:p.Pro666ThrfsTer9
XM_024454387.1:c.1964dup	XP_024310155.1:p.Pro656ThrfsTer9
NM_005219.5:c.2030dup MANE Select	NP_005210.3:p.Pro678ThrfsTer9
NM_001079812.3:c.2003dup	NP_001073280.1:p.Pro669ThrfsTer9
NM_001314007.2:c.2030dup	NP_001300936.1:p.Pro678ThrfsTer9