Canonical Allele Identifier: CA1082278866

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1933410
• ClinVar RCV Id: RCV002626931
• gnomAD v3: 5-141573878-GCAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGA-G
• gnomAD v4: 5-141573878-GCAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573896_141573931del , CM000667.2:g.141573896_141573931del	GRCh38
NC_000005.9:g.140953463_140953498del , CM000667.1:g.140953463_140953498del	GRCh37
NC_000005.8:g.140933647_140933682del	NCBI36
NG_011594.1:g.50142_50177del
NG_011594.2:g.50142_50177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1936_1971del MANE Select	ENSP00000373706.4:p.Ser646_Leu657del
ENST00000647433.1:c.1936_1971del	ENSP00000494675.1:p.Ser646_Leu657del
ENST00000253811.10:c.1804_1839del	ENSP00000253811.7:p.Ser602_Leu613del
ENST00000389054.7:c.1936_1971del	ENSP00000373706.4:p.Ser646_Leu657del
ENST00000389057.9:c.1909_1944del	ENSP00000373709.6:p.Ser637_Leu648del
ENST00000398557.8:c.1936_1971del	ENSP00000381565.5:p.Ser646_Leu657del
ENST00000518047.5:c.1909_1944del	ENSP00000428268.2:p.Ser637_Leu648del
NM_001079812.2:c.1909_1944del	NP_001073280.1:p.Ser637_Leu648del
NM_001314007.1:c.1936_1971del	NP_001300936.1:p.Ser646_Leu657del
NM_005219.4:c.1936_1971del	NP_005210.3:p.Ser646_Leu657del
XM_011537572.1:c.1900_1935del	XP_011535874.1:p.Ser634_Leu645del
XM_011537573.1:c.1870_1905del	XP_011535875.1:p.Ser624_Leu635del
XM_024454384.1:c.1936_1971del	XP_024310152.1:p.Ser646_Leu657del
XM_024454385.1:c.1909_1944del	XP_024310153.1:p.Ser637_Leu648del
XM_024454386.1:c.1900_1935del	XP_024310154.1:p.Ser634_Leu645del
XM_024454387.1:c.1870_1905del	XP_024310155.1:p.Ser624_Leu635del
NM_005219.5:c.1936_1971del MANE Select	NP_005210.3:p.Ser646_Leu657del
NM_001079812.3:c.1909_1944del	NP_001073280.1:p.Ser637_Leu648del
NM_001314007.2:c.1936_1971del	NP_001300936.1:p.Ser646_Leu657del