Canonical Allele Identifier: CA2573139309

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1514654
• ClinVar RCV Id: RCV002029457
• dbSNP Id: rs2154596291
• gnomAD v4: 5-141573801-C-CCCAGGCAAAGGAGGAGGTGGGGGGATGGCAGTACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573812_141573847dup , CM000667.2:g.141573812_141573847dup	GRCh38
NC_000005.9:g.140953379_140953414dup , CM000667.1:g.140953379_140953414dup	GRCh37
NC_000005.8:g.140933563_140933598dup	NCBI36
NG_011594.1:g.50219_50254dup
NG_011594.2:g.50219_50254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2013_2048dup MANE Select	ENSP00000373706.4:p.Gly683_Ser684insGlyThrAlaIleProProProProP...
ENST00000647433.1:c.2013_2048dup	ENSP00000494675.1:p.Gly683_Ser684insGlyThrAlaIleProProProProP...
ENST00000253811.10:c.1881_1916dup	ENSP00000253811.7:p.Gly639_Ser640insGlyThrAlaIleProProProProP...
ENST00000389054.7:c.2013_2048dup	ENSP00000373706.4:p.Gly683_Ser684insGlyThrAlaIleProProProProP...
ENST00000389057.9:c.1986_2021dup	ENSP00000373709.6:p.Gly674_Ser675insGlyThrAlaIleProProProProP...
ENST00000398557.8:c.2013_2048dup	ENSP00000381565.5:p.Gly683_Ser684insGlyThrAlaIleProProProProP...
ENST00000518047.5:c.1986_2021dup	ENSP00000428268.2:p.Gly674_Ser675insGlyThrAlaIleProProProProP...
NM_001079812.2:c.1986_2021dup	NP_001073280.1:p.Gly674_Ser675insGlyThrAlaIleProProProProProL...
NM_001314007.1:c.2013_2048dup	NP_001300936.1:p.Gly683_Ser684insGlyThrAlaIleProProProProProL...
NM_005219.4:c.2013_2048dup	NP_005210.3:p.Gly683_Ser684insGlyThrAlaIleProProProProProLeuP...
XM_011537572.1:c.1977_2012dup	XP_011535874.1:p.Gly671_Ser672insGlyThrAlaIleProProProProProL...
XM_011537573.1:c.1947_1982dup	XP_011535875.1:p.Gly661_Ser662insGlyThrAlaIleProProProProProL...
XM_024454384.1:c.2013_2048dup	XP_024310152.1:p.Gly683_Ser684insGlyThrAlaIleProProProProProL...
XM_024454385.1:c.1986_2021dup	XP_024310153.1:p.Gly674_Ser675insGlyThrAlaIleProProProProProL...
XM_024454386.1:c.1977_2012dup	XP_024310154.1:p.Gly671_Ser672insGlyThrAlaIleProProProProProL...
XM_024454387.1:c.1947_1982dup	XP_024310155.1:p.Gly661_Ser662insGlyThrAlaIleProProProProProL...
NM_005219.5:c.2013_2048dup MANE Select	NP_005210.3:p.Gly683_Ser684insGlyThrAlaIleProProProProProLeuP...
NM_001079812.3:c.1986_2021dup	NP_001073280.1:p.Gly674_Ser675insGlyThrAlaIleProProProProProL...
NM_001314007.2:c.2013_2048dup	NP_001300936.1:p.Gly683_Ser684insGlyThrAlaIleProProProProProL...