Canonical Allele Identifier: CA563502796

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 665955
• ClinVar RCV Id: RCV000824349 ; RCV001546501
• dbSNP Id: rs1562320985
• gnomAD v2: 5-140953556-A-AAGGAGGTGG
• gnomAD v3: 5-141573989-A-AAGGAGGTGG
• gnomAD v4: 5-141573989-A-AAGGAGGTGG
• MyVariant Identifiers: chr5:g.140953556_140953557insAGGAGGTGG (hg19) ; chr5:g.141573989_141573990insAGGAGGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573996_141574004dup , CM000667.2:g.141573996_141574004dup	GRCh38
NC_000005.9:g.140953563_140953571dup , CM000667.1:g.140953563_140953571dup	GRCh37
NC_000005.8:g.140933747_140933755dup	NCBI36
NG_011594.1:g.50058_50066dup
NG_011594.2:g.50058_50066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1852_1860dup MANE Select	ENSP00000373706.4:p.Pro620_Leu621insProProPro
ENST00000647433.1:c.1852_1860dup	ENSP00000494675.1:p.Pro620_Leu621insProProPro
ENST00000253811.10:c.1720_1728dup	ENSP00000253811.7:p.Pro576_Leu577insProProPro
ENST00000389054.7:c.1852_1860dup	ENSP00000373706.4:p.Pro620_Leu621insProProPro
ENST00000389057.9:c.1825_1833dup	ENSP00000373709.6:p.Pro611_Leu612insProProPro
ENST00000398557.8:c.1852_1860dup	ENSP00000381565.5:p.Pro620_Leu621insProProPro
ENST00000518047.5:c.1825_1833dup	ENSP00000428268.2:p.Pro611_Leu612insProProPro
NM_001079812.2:c.1825_1833dup	NP_001073280.1:p.Pro611_Leu612insProProPro
NM_001314007.1:c.1852_1860dup	NP_001300936.1:p.Pro620_Leu621insProProPro
NM_005219.4:c.1852_1860dup	NP_005210.3:p.Pro620_Leu621insProProPro
XM_011537572.1:c.1816_1824dup	XP_011535874.1:p.Pro608_Leu609insProProPro
XM_011537573.1:c.1786_1794dup	XP_011535875.1:p.Pro598_Leu599insProProPro
XM_024454384.1:c.1852_1860dup	XP_024310152.1:p.Pro620_Leu621insProProPro
XM_024454385.1:c.1825_1833dup	XP_024310153.1:p.Pro611_Leu612insProProPro
XM_024454386.1:c.1816_1824dup	XP_024310154.1:p.Pro608_Leu609insProProPro
XM_024454387.1:c.1786_1794dup	XP_024310155.1:p.Pro598_Leu599insProProPro
NM_005219.5:c.1852_1860dup MANE Select	NP_005210.3:p.Pro620_Leu621insProProPro
NM_001079812.3:c.1825_1833dup	NP_001073280.1:p.Pro611_Leu612insProProPro
NM_001314007.2:c.1852_1860dup	NP_001300936.1:p.Pro620_Leu621insProProPro