Canonical Allele Identifier: CA2675686911

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141515131-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141515132_141515133dup , CM000667.2:g.141515132_141515133dup	GRCh38
NC_000005.9:g.140894699_140894700dup , CM000667.1:g.140894699_140894700dup	GRCh37
NC_000005.8:g.140874883_140874884dup	NCBI36
NG_011594.1:g.108923_108924dup
NG_011594.2:g.108923_108924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.*1718_*1719dup MANE Select	ENSP00000373706.4:n.*1718_*1719dup
ENST00000448451.6:c.*1718_*1719dup	ENSP00000408159.2:n.*1718_*1719dup
ENST00000643718.1:n.2168_2169dup
ENST00000647433.1:c.*1837_*1838dup	ENSP00000494675.1:n.*1837_*1838dup
ENST00000253811.10:c.*1718_*1719dup	ENSP00000253811.7:n.*1718_*1719dup
ENST00000389054.7:c.*1718_*1719dup	ENSP00000373706.4:n.*1718_*1719dup
ENST00000389057.9:c.*1718_*1719dup	ENSP00000373709.6:n.*1718_*1719dup
ENST00000398557.8:c.*1718_*1719dup	ENSP00000381565.5:n.*1718_*1719dup
ENST00000476339.1:n.2489_2490dup
NM_001079812.2:c.*1718_*1719dup	NP_001073280.1:n.*1718_*1719dup
NM_001314007.1:c.*1837_*1838dup	NP_001300936.1:n.*1837_*1838dup
NM_005219.4:c.*1718_*1719dup	NP_005210.3:n.*1718_*1719dup
XM_011537572.1:c.*1718_*1719dup	XP_011535874.1:n.*1718_*1719dup
XM_011537573.1:c.*1718_*1719dup	XP_011535875.1:n.*1718_*1719dup
XM_024454384.1:c.*1718_*1719dup	XP_024310152.1:n.*1718_*1719dup
XM_024454385.1:c.*1718_*1719dup	XP_024310153.1:n.*1718_*1719dup
XM_024454386.1:c.*1718_*1719dup	XP_024310154.1:n.*1718_*1719dup
XM_024454387.1:c.*1718_*1719dup	XP_024310155.1:n.*1718_*1719dup
NM_005219.5:c.*1718_*1719dup MANE Select	NP_005210.3:n.*1718_*1719dup
NM_001079812.3:c.*1718_*1719dup	NP_001073280.1:n.*1718_*1719dup
NM_001314007.2:c.*1837_*1838dup	NP_001300936.1:n.*1837_*1838dup