Canonical Allele Identifier: CA2675691761

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573933-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573934del , CM000667.2:g.141573934del	GRCh38
NC_000005.9:g.140953501del , CM000667.1:g.140953501del	GRCh37
NC_000005.8:g.140933685del	NCBI36
NG_011594.1:g.50122del
NG_011594.2:g.50122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1916del MANE Select	ENSP00000373706.4:p.Ile639ThrfsTer?
ENST00000647433.1:c.1916del	ENSP00000494675.1:p.Ile639ThrfsTer?
ENST00000253811.10:c.1784del	ENSP00000253811.7:p.Ile595ThrfsTer?
ENST00000389054.7:c.1916del	ENSP00000373706.4:p.Ile639ThrfsTer?
ENST00000389057.9:c.1889del	ENSP00000373709.6:p.Ile630ThrfsTer?
ENST00000398557.8:c.1916del	ENSP00000381565.5:p.Ile639ThrfsTer?
ENST00000518047.5:c.1889del	ENSP00000428268.2:p.Ile630ThrfsTer?
NM_001079812.2:c.1889del	NP_001073280.1:p.Ile630ThrfsTer?
NM_001314007.1:c.1916del	NP_001300936.1:p.Ile639ThrfsTer?
NM_005219.4:c.1916del	NP_005210.3:p.Ile639ThrfsTer?
XM_011537572.1:c.1880del	XP_011535874.1:p.Ile627ThrfsTer?
XM_011537573.1:c.1850del	XP_011535875.1:p.Ile617ThrfsTer?
XM_024454384.1:c.1916del	XP_024310152.1:p.Ile639ThrfsTer?
XM_024454385.1:c.1889del	XP_024310153.1:p.Ile630ThrfsTer?
XM_024454386.1:c.1880del	XP_024310154.1:p.Ile627ThrfsTer?
XM_024454387.1:c.1850del	XP_024310155.1:p.Ile617ThrfsTer?
NM_005219.5:c.1916del MANE Select	NP_005210.3:p.Ile639ThrfsTer?
NM_001079812.3:c.1889del	NP_001073280.1:p.Ile630ThrfsTer?
NM_001314007.2:c.1916del	NP_001300936.1:p.Ile639ThrfsTer?