Canonical Allele Identifier: CA804796694

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1423802
• ClinVar RCV Id: RCV001929099 ; RCV003238879
• dbSNP Id: rs1323222030
• gnomAD v3: 5-141573844-AAAG-A
• gnomAD v4: 5-141573844-AAAG-A
• MyVariant Identifiers: chr5:g.140953412_140953414del (hg19) ; chr5:g.141573845_141573847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573849_141573851del , CM000667.2:g.141573849_141573851del	GRCh38
NC_000005.9:g.140953416_140953418del , CM000667.1:g.140953416_140953418del	GRCh37
NC_000005.8:g.140933600_140933602del	NCBI36
NG_011594.1:g.50209_50211del
NG_011594.2:g.50209_50211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2003_2005del MANE Select	ENSP00000373706.4:p.Ser668del
ENST00000647433.1:c.2003_2005del	ENSP00000494675.1:p.Ser668del
ENST00000253811.10:c.1871_1873del	ENSP00000253811.7:p.Ser624del
ENST00000389054.7:c.2003_2005del	ENSP00000373706.4:p.Ser668del
ENST00000389057.9:c.1976_1978del	ENSP00000373709.6:p.Ser659del
ENST00000398557.8:c.2003_2005del	ENSP00000381565.5:p.Ser668del
ENST00000518047.5:c.1976_1978del	ENSP00000428268.2:p.Ser659del
NM_001079812.2:c.1976_1978del	NP_001073280.1:p.Ser659del
NM_001314007.1:c.2003_2005del	NP_001300936.1:p.Ser668del
NM_005219.4:c.2003_2005del	NP_005210.3:p.Ser668del
XM_011537572.1:c.1967_1969del	XP_011535874.1:p.Ser656del
XM_011537573.1:c.1937_1939del	XP_011535875.1:p.Ser646del
XM_024454384.1:c.2003_2005del	XP_024310152.1:p.Ser668del
XM_024454385.1:c.1976_1978del	XP_024310153.1:p.Ser659del
XM_024454386.1:c.1967_1969del	XP_024310154.1:p.Ser656del
XM_024454387.1:c.1937_1939del	XP_024310155.1:p.Ser646del
NM_005219.5:c.2003_2005del MANE Select	NP_005210.3:p.Ser668del
NM_001079812.3:c.1976_1978del	NP_001073280.1:p.Ser659del
NM_001314007.2:c.2003_2005del	NP_001300936.1:p.Ser668del