Canonical Allele Identifier: CA2768670698

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573823_141573824insA , CM000667.2:g.141573823_141573824insA	GRCh38
NC_000005.9:g.140953390_140953391insA , CM000667.1:g.140953390_140953391insA	GRCh37
NC_000005.8:g.140933574_140933575insA	NCBI36
NG_011594.1:g.50232_50233insT
NG_011594.2:g.50232_50233insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2026_2027insT MANE Select	ENSP00000373706.4:p.Pro676LeufsTer11
ENST00000647433.1:c.2026_2027insT	ENSP00000494675.1:p.Pro676LeufsTer11
ENST00000253811.10:c.1894_1895insT	ENSP00000253811.7:p.Pro632LeufsTer11
ENST00000389054.7:c.2026_2027insT	ENSP00000373706.4:p.Pro676LeufsTer11
ENST00000389057.9:c.1999_2000insT	ENSP00000373709.6:p.Pro667LeufsTer11
ENST00000398557.8:c.2026_2027insT	ENSP00000381565.5:p.Pro676LeufsTer11
ENST00000518047.5:c.1999_2000insT	ENSP00000428268.2:p.Pro667LeufsTer11
NM_001079812.2:c.1999_2000insT	NP_001073280.1:p.Pro667LeufsTer11
NM_001314007.1:c.2026_2027insT	NP_001300936.1:p.Pro676LeufsTer11
NM_005219.4:c.2026_2027insT	NP_005210.3:p.Pro676LeufsTer11
XM_011537572.1:c.1990_1991insT	XP_011535874.1:p.Pro664LeufsTer11
XM_011537573.1:c.1960_1961insT	XP_011535875.1:p.Pro654LeufsTer11
XM_024454384.1:c.2026_2027insT	XP_024310152.1:p.Pro676LeufsTer11
XM_024454385.1:c.1999_2000insT	XP_024310153.1:p.Pro667LeufsTer11
XM_024454386.1:c.1990_1991insT	XP_024310154.1:p.Pro664LeufsTer11
XM_024454387.1:c.1960_1961insT	XP_024310155.1:p.Pro654LeufsTer11
NM_005219.5:c.2026_2027insT MANE Select	NP_005210.3:p.Pro676LeufsTer11
NM_001079812.3:c.1999_2000insT	NP_001073280.1:p.Pro667LeufsTer11
NM_001314007.2:c.2026_2027insT	NP_001300936.1:p.Pro676LeufsTer11