Canonical Allele Identifier: CA1082278737

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573785-GGGGGATTCTAGCACTCCC-G
• gnomAD v4: 5-141573785-GGGGGATTCTAGCACTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573786_141573803del , CM000667.2:g.141573786_141573803del	GRCh38
NC_000005.9:g.140953353_140953370del , CM000667.1:g.140953353_140953370del	GRCh37
NC_000005.8:g.140933537_140933554del	NCBI36
NG_011594.1:g.50253_50270del
NG_011594.2:g.50253_50270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2047_2064del MANE Select	ENSP00000373706.4:p.Gly683_Pro688del
ENST00000647433.1:c.2047_2064del	ENSP00000494675.1:p.Gly683_Pro688del
ENST00000253811.10:c.1915_1932del	ENSP00000253811.7:p.Gly639_Pro644del
ENST00000389054.7:c.2047_2064del	ENSP00000373706.4:p.Gly683_Pro688del
ENST00000389057.9:c.2020_2037del	ENSP00000373709.6:p.Gly674_Pro679del
ENST00000398557.8:c.2047_2064del	ENSP00000381565.5:p.Gly683_Pro688del
ENST00000518047.5:c.2020_2037del	ENSP00000428268.2:p.Gly674_Pro679del
NM_001079812.2:c.2020_2037del	NP_001073280.1:p.Gly674_Pro679del
NM_001314007.1:c.2047_2064del	NP_001300936.1:p.Gly683_Pro688del
NM_005219.4:c.2047_2064del	NP_005210.3:p.Gly683_Pro688del
XM_011537572.1:c.2011_2028del	XP_011535874.1:p.Gly671_Pro676del
XM_011537573.1:c.1981_1998del	XP_011535875.1:p.Gly661_Pro666del
XM_024454384.1:c.2047_2064del	XP_024310152.1:p.Gly683_Pro688del
XM_024454385.1:c.2020_2037del	XP_024310153.1:p.Gly674_Pro679del
XM_024454386.1:c.2011_2028del	XP_024310154.1:p.Gly671_Pro676del
XM_024454387.1:c.1981_1998del	XP_024310155.1:p.Gly661_Pro666del
NM_005219.5:c.2047_2064del MANE Select	NP_005210.3:p.Gly683_Pro688del
NM_001079812.3:c.2020_2037del	NP_001073280.1:p.Gly674_Pro679del
NM_001314007.2:c.2047_2064del	NP_001300936.1:p.Gly683_Pro688del