Canonical Allele Identifier: CA10622878

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 351253
• ClinVar RCV Id: RCV000336785 ; RCV003430897
• dbSNP Id: rs539203577
• gnomAD v2: 5-140894651-C-CAG
• gnomAD v3: 5-141515084-C-CAG
• gnomAD v4: 5-141515084-C-CAG
• MyVariant Identifiers: chr5:g.140894652_140894653dupAG (hg19) ; chr5:g.140894651_140894652insAG (hg19) ; chr5:g.141515085_141515086dupAG (hg38) ; chr5:g.141515084_141515085insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141515086_141515087dup , CM000667.2:g.141515086_141515087dup	GRCh38
NC_000005.9:g.140894653_140894654dup , CM000667.1:g.140894653_140894654dup	GRCh37
NC_000005.8:g.140874837_140874838dup	NCBI36
NG_011594.1:g.108970_108971dup
NG_011594.2:g.108970_108971dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.*1765_*1766dup MANE Select	ENSP00000373706.4:n.*1765_*1766dup
ENST00000448451.6:c.*1765_*1766dup	ENSP00000408159.2:n.*1765_*1766dup
ENST00000643718.1:n.2215_2216dup
ENST00000647433.1:c.*1884_*1885dup	ENSP00000494675.1:n.*1884_*1885dup
ENST00000253811.10:c.*1765_*1766dup	ENSP00000253811.7:n.*1765_*1766dup
ENST00000389054.7:c.*1765_*1766dup	ENSP00000373706.4:n.*1765_*1766dup
ENST00000389057.9:c.*1765_*1766dup	ENSP00000373709.6:n.*1765_*1766dup
ENST00000398557.8:c.*1765_*1766dup	ENSP00000381565.5:n.*1765_*1766dup
ENST00000476339.1:n.2536_2537dup
NM_001079812.2:c.*1765_*1766dup	NP_001073280.1:n.*1765_*1766dup
NM_001314007.1:c.*1884_*1885dup	NP_001300936.1:n.*1884_*1885dup
NM_005219.4:c.*1765_*1766dup	NP_005210.3:n.*1765_*1766dup
XM_011537572.1:c.*1765_*1766dup	XP_011535874.1:n.*1765_*1766dup
XM_011537573.1:c.*1765_*1766dup	XP_011535875.1:n.*1765_*1766dup
XM_024454384.1:c.*1765_*1766dup	XP_024310152.1:n.*1765_*1766dup
XM_024454385.1:c.*1765_*1766dup	XP_024310153.1:n.*1765_*1766dup
XM_024454386.1:c.*1765_*1766dup	XP_024310154.1:n.*1765_*1766dup
XM_024454387.1:c.*1765_*1766dup	XP_024310155.1:n.*1765_*1766dup
NM_005219.5:c.*1765_*1766dup MANE Select	NP_005210.3:n.*1765_*1766dup
NM_001079812.3:c.*1765_*1766dup	NP_001073280.1:n.*1765_*1766dup
NM_001314007.2:c.*1884_*1885dup	NP_001300936.1:n.*1884_*1885dup