Canonical Allele Identifier: CA913108377

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 2940576
• ClinVar RCV Id: RCV003799886
• dbSNP Id: rs2099895551
• MyVariant Identifiers: chr5:g.140953387_140953389del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573823_141573825del , CM000667.2:g.141573823_141573825del	GRCh38
NC_000005.9:g.140953390_140953392del , CM000667.1:g.140953390_140953392del	GRCh37
NC_000005.8:g.140933574_140933576del	NCBI36
NG_011594.1:g.50234_50236del
NG_011594.2:g.50234_50236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2028_2030del MANE Select	ENSP00000373706.4:p.Pro677del
ENST00000647433.1:c.2028_2030del	ENSP00000494675.1:p.Pro677del
ENST00000253811.10:c.1896_1898del	ENSP00000253811.7:p.Pro633del
ENST00000389054.7:c.2028_2030del	ENSP00000373706.4:p.Pro677del
ENST00000389057.9:c.2001_2003del	ENSP00000373709.6:p.Pro668del
ENST00000398557.8:c.2028_2030del	ENSP00000381565.5:p.Pro677del
ENST00000518047.5:c.2001_2003del	ENSP00000428268.2:p.Pro668del
NM_001079812.2:c.2001_2003del	NP_001073280.1:p.Pro668del
NM_001314007.1:c.2028_2030del	NP_001300936.1:p.Pro677del
NM_005219.4:c.2028_2030del	NP_005210.3:p.Pro677del
XM_011537572.1:c.1992_1994del	XP_011535874.1:p.Pro665del
XM_011537573.1:c.1962_1964del	XP_011535875.1:p.Pro655del
XM_024454384.1:c.2028_2030del	XP_024310152.1:p.Pro677del
XM_024454385.1:c.2001_2003del	XP_024310153.1:p.Pro668del
XM_024454386.1:c.1992_1994del	XP_024310154.1:p.Pro665del
XM_024454387.1:c.1962_1964del	XP_024310155.1:p.Pro655del
NM_005219.5:c.2028_2030del MANE Select	NP_005210.3:p.Pro677del
NM_001079812.3:c.2001_2003del	NP_001073280.1:p.Pro668del
NM_001314007.2:c.2028_2030del	NP_001300936.1:p.Pro677del