Canonical Allele Identifier: CA1082265536

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141524149-G-GGGGGTGA
• gnomAD v4: 5-141524149-G-GGGGGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524152_141524153insGTGAGGG , CM000667.2:g.141524152_141524153insGTGAGGG	GRCh38
NC_000005.9:g.140903719_140903720insGTGAGGG , CM000667.1:g.140903719_140903720insGTGAGGG	GRCh37
NC_000005.8:g.140883903_140883904insGTGAGGG	NCBI36
NG_011594.1:g.99906_99907insTCACCCC
NG_011594.2:g.99906_99907insTCACCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3654_3655insTCACCCC MANE Select	ENSP00000373706.4:p.Arg1219SerfsTer25
ENST00000448451.6:c.60_61insTCACCCC	ENSP00000408159.2:p.Arg21SerfsTer25
ENST00000643312.1:c.60_61insTCACCCC	ENSP00000495191.1:p.Arg21SerfsTer25
ENST00000643718.1:n.134_135insTCACCCC
ENST00000647433.1:c.3654_3655insTCACCCC	ENSP00000494675.1:p.Arg1219SerfsTer21
ENST00000253811.10:c.3522_3523insTCACCCC	ENSP00000253811.7:p.Arg1175SerfsTer25
ENST00000389054.7:c.3654_3655insTCACCCC	ENSP00000373706.4:p.Arg1219SerfsTer25
ENST00000389057.9:c.3627_3628insTCACCCC	ENSP00000373709.6:p.Arg1210SerfsTer25
ENST00000398557.8:c.3654_3655insTCACCCC	ENSP00000381565.5:p.Arg1219SerfsTer25
ENST00000448451.5:c.190_191insTCACCCC
ENST00000468119.3:n.175_176insTCACCCC
ENST00000476339.1:n.606_607insTCACCCC
ENST00000518047.5:c.3627_3628insTCACCCC	ENSP00000428268.2:p.Arg1210SerfsTer25
NM_001079812.2:c.3627_3628insTCACCCC	NP_001073280.1:p.Arg1210SerfsTer25
NM_001314007.1:c.3654_3655insTCACCCC	NP_001300936.1:p.Arg1219SerfsTer21
NM_005219.4:c.3654_3655insTCACCCC	NP_005210.3:p.Arg1219SerfsTer25
XM_011537572.1:c.3618_3619insTCACCCC	XP_011535874.1:p.Arg1207SerfsTer25
XM_011537573.1:c.3588_3589insTCACCCC	XP_011535875.1:p.Arg1197SerfsTer25
XM_024454384.1:c.3777_3778insTCACCCC	XP_024310152.1:p.Arg1260SerfsTer25
XM_024454385.1:c.3750_3751insTCACCCC	XP_024310153.1:p.Arg1251SerfsTer25
XM_024454386.1:c.3741_3742insTCACCCC	XP_024310154.1:p.Arg1248SerfsTer25
XM_024454387.1:c.3711_3712insTCACCCC	XP_024310155.1:p.Arg1238SerfsTer25
NM_005219.5:c.3654_3655insTCACCCC MANE Select	NP_005210.3:p.Arg1219SerfsTer25
NM_001079812.3:c.3627_3628insTCACCCC	NP_001073280.1:p.Arg1210SerfsTer25
NM_001314007.2:c.3654_3655insTCACCCC	NP_001300936.1:p.Arg1219SerfsTer21