Canonical Allele Identifier: CA1082278704

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573755-C-CAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCT
• gnomAD v4: 5-141573755-C-CAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573777_141573815dup , CM000667.2:g.141573777_141573815dup	GRCh38
NC_000005.9:g.140953344_140953382dup , CM000667.1:g.140953344_140953382dup	GRCh37
NC_000005.8:g.140933528_140933566dup	NCBI36
NG_011594.1:g.50262_50300dup
NG_011594.2:g.50262_50300dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2056_2094dup MANE Select	ENSP00000373706.4:p.Ala698_Gly699insArgIleProProProProProProL...
ENST00000647433.1:c.2056_2094dup	ENSP00000494675.1:p.Ala698_Gly699insArgIleProProProProProProL...
ENST00000253811.10:c.1924_1962dup	ENSP00000253811.7:p.Ala654_Gly655insArgIleProProProProProProL...
ENST00000389054.7:c.2056_2094dup	ENSP00000373706.4:p.Ala698_Gly699insArgIleProProProProProProL...
ENST00000389057.9:c.2029_2067dup	ENSP00000373709.6:p.Ala689_Gly690insArgIleProProProProProProL...
ENST00000398557.8:c.2056_2094dup	ENSP00000381565.5:p.Ala698_Gly699insArgIleProProProProProProL...
ENST00000518047.5:c.2029_2067dup	ENSP00000428268.2:p.Ala689_Gly690insArgIleProProProProProProL...
NM_001079812.2:c.2029_2067dup	NP_001073280.1:p.Ala689_Gly690insArgIleProProProProProProLeuP...
NM_001314007.1:c.2056_2094dup	NP_001300936.1:p.Ala698_Gly699insArgIleProProProProProProLeuP...
NM_005219.4:c.2056_2094dup	NP_005210.3:p.Ala698_Gly699insArgIleProProProProProProLeuProG...
XM_011537572.1:c.2020_2058dup	XP_011535874.1:p.Ala686_Gly687insArgIleProProProProProProLeuP...
XM_011537573.1:c.1990_2028dup	XP_011535875.1:p.Ala676_Gly677insArgIleProProProProProProLeuP...
XM_024454384.1:c.2056_2094dup	XP_024310152.1:p.Ala698_Gly699insArgIleProProProProProProLeuP...
XM_024454385.1:c.2029_2067dup	XP_024310153.1:p.Ala689_Gly690insArgIleProProProProProProLeuP...
XM_024454386.1:c.2020_2058dup	XP_024310154.1:p.Ala686_Gly687insArgIleProProProProProProLeuP...
XM_024454387.1:c.1990_2028dup	XP_024310155.1:p.Ala676_Gly677insArgIleProProProProProProLeuP...
NM_005219.5:c.2056_2094dup MANE Select	NP_005210.3:p.Ala698_Gly699insArgIleProProProProProProLeuProG...
NM_001079812.3:c.2029_2067dup	NP_001073280.1:p.Ala689_Gly690insArgIleProProProProProProLeuP...
NM_001314007.2:c.2056_2094dup	NP_001300936.1:p.Ala698_Gly699insArgIleProProProProProProLeuP...