Canonical Allele Identifier: CA1587247654

Gene: DIAPH1

Linked Data

• dbSNP Id: rs2099895553

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573826_141573828del , CM000667.2:g.141573826_141573828del	GRCh38
NC_000005.9:g.140953393_140953395del , CM000667.1:g.140953393_140953395del	GRCh37
NC_000005.8:g.140933577_140933579del	NCBI36
NG_011594.1:g.50229_50231del
NG_011594.2:g.50229_50231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2023_2025del MANE Select	ENSP00000373706.4:p.Ile675del
ENST00000647433.1:c.2023_2025del	ENSP00000494675.1:p.Ile675del
ENST00000253811.10:c.1891_1893del	ENSP00000253811.7:p.Ile631del
ENST00000389054.7:c.2023_2025del	ENSP00000373706.4:p.Ile675del
ENST00000389057.9:c.1996_1998del	ENSP00000373709.6:p.Ile666del
ENST00000398557.8:c.2023_2025del	ENSP00000381565.5:p.Ile675del
ENST00000518047.5:c.1996_1998del	ENSP00000428268.2:p.Ile666del
NM_001079812.2:c.1996_1998del	NP_001073280.1:p.Ile666del
NM_001314007.1:c.2023_2025del	NP_001300936.1:p.Ile675del
NM_005219.4:c.2023_2025del	NP_005210.3:p.Ile675del
XM_011537572.1:c.1987_1989del	XP_011535874.1:p.Ile663del
XM_011537573.1:c.1957_1959del	XP_011535875.1:p.Ile653del
XM_024454384.1:c.2023_2025del	XP_024310152.1:p.Ile675del
XM_024454385.1:c.1996_1998del	XP_024310153.1:p.Ile666del
XM_024454386.1:c.1987_1989del	XP_024310154.1:p.Ile663del
XM_024454387.1:c.1957_1959del	XP_024310155.1:p.Ile653del
NM_005219.5:c.2023_2025del MANE Select	NP_005210.3:p.Ile675del
NM_001079812.3:c.1996_1998del	NP_001073280.1:p.Ile666del
NM_001314007.2:c.2023_2025del	NP_001300936.1:p.Ile675del