Canonical Allele Identifier: CA1082278911

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1993883
• ClinVar RCV Id: RCV002806442
• gnomAD v3: 5-141573990-A-AGGAGGG
• gnomAD v4: 5-141573990-A-AGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573995_141573996insGGGAGG , CM000667.2:g.141573995_141573996insGGGAGG	GRCh38
NC_000005.9:g.140953562_140953563insGGGAGG , CM000667.1:g.140953562_140953563insGGGAGG	GRCh37
NC_000005.8:g.140933746_140933747insGGGAGG	NCBI36
NG_011594.1:g.50065_50066insCCCTCC
NG_011594.2:g.50065_50066insCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1859_1860insCCCTCC MANE Select	ENSP00000373706.4:p.Pro620_Leu621insProPro
ENST00000647433.1:c.1859_1860insCCCTCC	ENSP00000494675.1:p.Pro620_Leu621insProPro
ENST00000253811.10:c.1727_1728insCCCTCC	ENSP00000253811.7:p.Pro576_Leu577insProPro
ENST00000389054.7:c.1859_1860insCCCTCC	ENSP00000373706.4:p.Pro620_Leu621insProPro
ENST00000389057.9:c.1832_1833insCCCTCC	ENSP00000373709.6:p.Pro611_Leu612insProPro
ENST00000398557.8:c.1859_1860insCCCTCC	ENSP00000381565.5:p.Pro620_Leu621insProPro
ENST00000518047.5:c.1832_1833insCCCTCC	ENSP00000428268.2:p.Pro611_Leu612insProPro
NM_001079812.2:c.1832_1833insCCCTCC	NP_001073280.1:p.Pro611_Leu612insProPro
NM_001314007.1:c.1859_1860insCCCTCC	NP_001300936.1:p.Pro620_Leu621insProPro
NM_005219.4:c.1859_1860insCCCTCC	NP_005210.3:p.Pro620_Leu621insProPro
XM_011537572.1:c.1823_1824insCCCTCC	XP_011535874.1:p.Pro608_Leu609insProPro
XM_011537573.1:c.1793_1794insCCCTCC	XP_011535875.1:p.Pro598_Leu599insProPro
XM_024454384.1:c.1859_1860insCCCTCC	XP_024310152.1:p.Pro620_Leu621insProPro
XM_024454385.1:c.1832_1833insCCCTCC	XP_024310153.1:p.Pro611_Leu612insProPro
XM_024454386.1:c.1823_1824insCCCTCC	XP_024310154.1:p.Pro608_Leu609insProPro
XM_024454387.1:c.1793_1794insCCCTCC	XP_024310155.1:p.Pro598_Leu599insProPro
NM_005219.5:c.1859_1860insCCCTCC MANE Select	NP_005210.3:p.Pro620_Leu621insProPro
NM_001079812.3:c.1832_1833insCCCTCC	NP_001073280.1:p.Pro611_Leu612insProPro
NM_001314007.2:c.1859_1860insCCCTCC	NP_001300936.1:p.Pro620_Leu621insProPro