Canonical Allele Identifier: CA1587248346

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574050_141574056delinsAGGTGGT , CM000667.2:g.141574050_141574056delinsAGGTGGT	GRCh38
NC_000005.9:g.140953617_140953623delinsAGGTGGT , CM000667.1:g.140953617_140953623delinsAGGTGGT	GRCh37
NC_000005.8:g.140933801_140933807delinsAGGTGGT	NCBI36
NG_011594.1:g.50000_50006delinsACCACCT
NG_011594.2:g.50000_50006delinsACCACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1794_1800delinsACCACCT MANE Select	ENSP00000373706.4:p.Pro598=
ENST00000647330.1:c.1771_1777delinsACCACCT	ENSP00000494308.1:n.1771_1777delinsACCACCT
ENST00000647433.1:c.1794_1800delinsACCACCT	ENSP00000494675.1:p.Pro598=
ENST00000253811.10:c.1662_1668delinsACCACCT	ENSP00000253811.7:p.Pro554=
ENST00000389054.7:c.1794_1800delinsACCACCT	ENSP00000373706.4:p.Pro598=
ENST00000389057.9:c.1767_1773delinsACCACCT	ENSP00000373709.6:p.Pro589=
ENST00000398557.8:c.1794_1800delinsACCACCT	ENSP00000381565.5:p.Pro598=
ENST00000518047.5:c.1767_1773delinsACCACCT	ENSP00000428268.2:p.Pro589=
NM_001079812.2:c.1767_1773delinsACCACCT	NP_001073280.1:p.Pro589=
NM_001314007.1:c.1794_1800delinsACCACCT	NP_001300936.1:p.Pro598=
NM_005219.4:c.1794_1800delinsACCACCT	NP_005210.3:p.Pro598=
XM_011537572.1:c.1758_1764delinsACCACCT	XP_011535874.1:p.Pro586=
XM_011537573.1:c.1728_1734delinsACCACCT	XP_011535875.1:p.Pro576=
XM_024454384.1:c.1794_1800delinsACCACCT	XP_024310152.1:p.Pro598=
XM_024454385.1:c.1767_1773delinsACCACCT	XP_024310153.1:p.Pro589=
XM_024454386.1:c.1758_1764delinsACCACCT	XP_024310154.1:p.Pro586=
XM_024454387.1:c.1728_1734delinsACCACCT	XP_024310155.1:p.Pro576=
NM_005219.5:c.1794_1800delinsACCACCT MANE Select	NP_005210.3:p.Pro598=
NM_001079812.3:c.1767_1773delinsACCACCT	NP_001073280.1:p.Pro589=
NM_001314007.2:c.1794_1800delinsACCACCT	NP_001300936.1:p.Pro598=