Canonical Allele Identifier: CA1082278752

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573806-GCAA-G
• gnomAD v4: 5-141573806-GCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573807_141573809del , CM000667.2:g.141573807_141573809del	GRCh38
NC_000005.9:g.140953374_140953376del , CM000667.1:g.140953374_140953376del	GRCh37
NC_000005.8:g.140933558_140933560del	NCBI36
NG_011594.1:g.50247_50249del
NG_011594.2:g.50247_50249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2041_2043del MANE Select	ENSP00000373706.4:p.Leu681del
ENST00000647433.1:c.2041_2043del	ENSP00000494675.1:p.Leu681del
ENST00000253811.10:c.1909_1911del	ENSP00000253811.7:p.Leu637del
ENST00000389054.7:c.2041_2043del	ENSP00000373706.4:p.Leu681del
ENST00000389057.9:c.2014_2016del	ENSP00000373709.6:p.Leu672del
ENST00000398557.8:c.2041_2043del	ENSP00000381565.5:p.Leu681del
ENST00000518047.5:c.2014_2016del	ENSP00000428268.2:p.Leu672del
NM_001079812.2:c.2014_2016del	NP_001073280.1:p.Leu672del
NM_001314007.1:c.2041_2043del	NP_001300936.1:p.Leu681del
NM_005219.4:c.2041_2043del	NP_005210.3:p.Leu681del
XM_011537572.1:c.2005_2007del	XP_011535874.1:p.Leu669del
XM_011537573.1:c.1975_1977del	XP_011535875.1:p.Leu659del
XM_024454384.1:c.2041_2043del	XP_024310152.1:p.Leu681del
XM_024454385.1:c.2014_2016del	XP_024310153.1:p.Leu672del
XM_024454386.1:c.2005_2007del	XP_024310154.1:p.Leu669del
XM_024454387.1:c.1975_1977del	XP_024310155.1:p.Leu659del
NM_005219.5:c.2041_2043del MANE Select	NP_005210.3:p.Leu681del
NM_001079812.3:c.2014_2016del	NP_001073280.1:p.Leu672del
NM_001314007.2:c.2041_2043del	NP_001300936.1:p.Leu681del