Canonical Allele Identifier: CA2768670658

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573749_141573825del , CM000667.2:g.141573749_141573825del	GRCh38
NC_000005.9:g.140953316_140953392del , CM000667.1:g.140953316_140953392del	GRCh37
NC_000005.8:g.140933500_140933576del	NCBI36
NG_011594.1:g.50237_50313del
NG_011594.2:g.50237_50313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2031_2107del MANE Select	ENSP00000373706.4:p.Pro678ThrfsTer?
ENST00000647433.1:c.2031_2107del	ENSP00000494675.1:p.Pro678ThrfsTer?
ENST00000253811.10:c.1899_1975del	ENSP00000253811.7:p.Pro634ThrfsTer?
ENST00000389054.7:c.2031_2107del	ENSP00000373706.4:p.Pro678ThrfsTer?
ENST00000389057.9:c.2004_2080del	ENSP00000373709.6:p.Pro669ThrfsTer?
ENST00000398557.8:c.2031_2107del	ENSP00000381565.5:p.Pro678ThrfsTer?
ENST00000518047.5:c.2004_2080del	ENSP00000428268.2:p.Pro669ThrfsTer?
NM_001079812.2:c.2004_2080del	NP_001073280.1:p.Pro669ThrfsTer?
NM_001314007.1:c.2031_2107del	NP_001300936.1:p.Pro678ThrfsTer?
NM_005219.4:c.2031_2107del	NP_005210.3:p.Pro678ThrfsTer?
XM_011537572.1:c.1995_2071del	XP_011535874.1:p.Pro666ThrfsTer?
XM_011537573.1:c.1965_2041del	XP_011535875.1:p.Pro656ThrfsTer?
XM_024454384.1:c.2031_2107del	XP_024310152.1:p.Pro678ThrfsTer?
XM_024454385.1:c.2004_2080del	XP_024310153.1:p.Pro669ThrfsTer?
XM_024454386.1:c.1995_2071del	XP_024310154.1:p.Pro666ThrfsTer?
XM_024454387.1:c.1965_2041del	XP_024310155.1:p.Pro656ThrfsTer?
NM_005219.5:c.2031_2107del MANE Select	NP_005210.3:p.Pro678ThrfsTer?
NM_001079812.3:c.2004_2080del	NP_001073280.1:p.Pro669ThrfsTer?
NM_001314007.2:c.2031_2107del	NP_001300936.1:p.Pro678ThrfsTer?