Canonical Allele Identifier: CA2578432702

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573999-A-AGGAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574004_141574005insTGGAGG , CM000667.2:g.141574004_141574005insTGGAGG	GRCh38
NC_000005.9:g.140953571_140953572insTGGAGG , CM000667.1:g.140953571_140953572insTGGAGG	GRCh37
NC_000005.8:g.140933755_140933756insTGGAGG	NCBI36
NG_011594.1:g.50056_50057insACCTCC
NG_011594.2:g.50056_50057insACCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1850_1851insACCTCC MANE Select	ENSP00000373706.4:p.Pro617_Pro618insProPro
ENST00000647433.1:c.1850_1851insACCTCC	ENSP00000494675.1:p.Pro617_Pro618insProPro
ENST00000253811.10:c.1718_1719insACCTCC	ENSP00000253811.7:p.Pro573_Pro574insProPro
ENST00000389054.7:c.1850_1851insACCTCC	ENSP00000373706.4:p.Pro617_Pro618insProPro
ENST00000389057.9:c.1823_1824insACCTCC	ENSP00000373709.6:p.Pro608_Pro609insProPro
ENST00000398557.8:c.1850_1851insACCTCC	ENSP00000381565.5:p.Pro617_Pro618insProPro
ENST00000518047.5:c.1823_1824insACCTCC	ENSP00000428268.2:p.Pro608_Pro609insProPro
NM_001079812.2:c.1823_1824insACCTCC	NP_001073280.1:p.Pro608_Pro609insProPro
NM_001314007.1:c.1850_1851insACCTCC	NP_001300936.1:p.Pro617_Pro618insProPro
NM_005219.4:c.1850_1851insACCTCC	NP_005210.3:p.Pro617_Pro618insProPro
XM_011537572.1:c.1814_1815insACCTCC	XP_011535874.1:p.Pro605_Pro606insProPro
XM_011537573.1:c.1784_1785insACCTCC	XP_011535875.1:p.Pro595_Pro596insProPro
XM_024454384.1:c.1850_1851insACCTCC	XP_024310152.1:p.Pro617_Pro618insProPro
XM_024454385.1:c.1823_1824insACCTCC	XP_024310153.1:p.Pro608_Pro609insProPro
XM_024454386.1:c.1814_1815insACCTCC	XP_024310154.1:p.Pro605_Pro606insProPro
XM_024454387.1:c.1784_1785insACCTCC	XP_024310155.1:p.Pro595_Pro596insProPro
NM_005219.5:c.1850_1851insACCTCC MANE Select	NP_005210.3:p.Pro617_Pro618insProPro
NM_001079812.3:c.1823_1824insACCTCC	NP_001073280.1:p.Pro608_Pro609insProPro
NM_001314007.2:c.1850_1851insACCTCC	NP_001300936.1:p.Pro617_Pro618insProPro