Canonical Allele Identifier: CA2675691753

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573857-A-AACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573858_141573859insCCCA , CM000667.2:g.141573858_141573859insCCCA	GRCh38
NC_000005.9:g.140953425_140953426insCCCA , CM000667.1:g.140953425_140953426insCCCA	GRCh37
NC_000005.8:g.140933609_140933610insCCCA	NCBI36
NG_011594.1:g.50198_50199insGGGT
NG_011594.2:g.50198_50199insGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1992_1993insGGGT MANE Select	ENSP00000373706.4:p.Ser665GlyfsTer23
ENST00000647433.1:c.1992_1993insGGGT	ENSP00000494675.1:p.Ser665GlyfsTer23
ENST00000253811.10:c.1860_1861insGGGT	ENSP00000253811.7:p.Ser621GlyfsTer23
ENST00000389054.7:c.1992_1993insGGGT	ENSP00000373706.4:p.Ser665GlyfsTer23
ENST00000389057.9:c.1965_1966insGGGT	ENSP00000373709.6:p.Ser656GlyfsTer23
ENST00000398557.8:c.1992_1993insGGGT	ENSP00000381565.5:p.Ser665GlyfsTer23
ENST00000518047.5:c.1965_1966insGGGT	ENSP00000428268.2:p.Ser656GlyfsTer23
NM_001079812.2:c.1965_1966insGGGT	NP_001073280.1:p.Ser656GlyfsTer23
NM_001314007.1:c.1992_1993insGGGT	NP_001300936.1:p.Ser665GlyfsTer23
NM_005219.4:c.1992_1993insGGGT	NP_005210.3:p.Ser665GlyfsTer23
XM_011537572.1:c.1956_1957insGGGT	XP_011535874.1:p.Ser653GlyfsTer23
XM_011537573.1:c.1926_1927insGGGT	XP_011535875.1:p.Ser643GlyfsTer23
XM_024454384.1:c.1992_1993insGGGT	XP_024310152.1:p.Ser665GlyfsTer23
XM_024454385.1:c.1965_1966insGGGT	XP_024310153.1:p.Ser656GlyfsTer23
XM_024454386.1:c.1956_1957insGGGT	XP_024310154.1:p.Ser653GlyfsTer23
XM_024454387.1:c.1926_1927insGGGT	XP_024310155.1:p.Ser643GlyfsTer23
NM_005219.5:c.1992_1993insGGGT MANE Select	NP_005210.3:p.Ser665GlyfsTer23
NM_001079812.3:c.1965_1966insGGGT	NP_001073280.1:p.Ser656GlyfsTer23
NM_001314007.2:c.1992_1993insGGGT	NP_001300936.1:p.Ser665GlyfsTer23