Canonical Allele Identifier: CA2740094098

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 2940043
• ClinVar RCV Id: RCV003797401

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573783_141573821del , CM000667.2:g.141573783_141573821del	GRCh38
NC_000005.9:g.140953350_140953388del , CM000667.1:g.140953350_140953388del	GRCh37
NC_000005.8:g.140933534_140933572del	NCBI36
NG_011594.1:g.50240_50278del
NG_011594.2:g.50240_50278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2034_2072del MANE Select	ENSP00000373706.4:p.Pro679_Pro691del
ENST00000647433.1:c.2034_2072del	ENSP00000494675.1:p.Pro679_Pro691del
ENST00000253811.10:c.1902_1940del	ENSP00000253811.7:p.Pro635_Pro647del
ENST00000389054.7:c.2034_2072del	ENSP00000373706.4:p.Pro679_Pro691del
ENST00000389057.9:c.2007_2045del	ENSP00000373709.6:p.Pro670_Pro682del
ENST00000398557.8:c.2034_2072del	ENSP00000381565.5:p.Pro679_Pro691del
ENST00000518047.5:c.2007_2045del	ENSP00000428268.2:p.Pro670_Pro682del
NM_001079812.2:c.2007_2045del	NP_001073280.1:p.Pro670_Pro682del
NM_001314007.1:c.2034_2072del	NP_001300936.1:p.Pro679_Pro691del
NM_005219.4:c.2034_2072del	NP_005210.3:p.Pro679_Pro691del
XM_011537572.1:c.1998_2036del	XP_011535874.1:p.Pro667_Pro679del
XM_011537573.1:c.1968_2006del	XP_011535875.1:p.Pro657_Pro669del
XM_024454384.1:c.2034_2072del	XP_024310152.1:p.Pro679_Pro691del
XM_024454385.1:c.2007_2045del	XP_024310153.1:p.Pro670_Pro682del
XM_024454386.1:c.1998_2036del	XP_024310154.1:p.Pro667_Pro679del
XM_024454387.1:c.1968_2006del	XP_024310155.1:p.Pro657_Pro669del
NM_005219.5:c.2034_2072del MANE Select	NP_005210.3:p.Pro679_Pro691del
NM_001079812.3:c.2007_2045del	NP_001073280.1:p.Pro670_Pro682del
NM_001314007.2:c.2034_2072del	NP_001300936.1:p.Pro679_Pro691del