Canonical Allele Identifier: CA2675691748

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573813-A-AGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573815_141573816insTGG , CM000667.2:g.141573815_141573816insTGG	GRCh38
NC_000005.9:g.140953382_140953383insTGG , CM000667.1:g.140953382_140953383insTGG	GRCh37
NC_000005.8:g.140933566_140933567insTGG	NCBI36
NG_011594.1:g.50242_50243insACC
NG_011594.2:g.50242_50243insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2036_2037insACC MANE Select	ENSP00000373706.4:p.Pro679_Pro680insPro
ENST00000647433.1:c.2036_2037insACC	ENSP00000494675.1:p.Pro679_Pro680insPro
ENST00000253811.10:c.1904_1905insACC	ENSP00000253811.7:p.Pro635_Pro636insPro
ENST00000389054.7:c.2036_2037insACC	ENSP00000373706.4:p.Pro679_Pro680insPro
ENST00000389057.9:c.2009_2010insACC	ENSP00000373709.6:p.Pro670_Pro671insPro
ENST00000398557.8:c.2036_2037insACC	ENSP00000381565.5:p.Pro679_Pro680insPro
ENST00000518047.5:c.2009_2010insACC	ENSP00000428268.2:p.Pro670_Pro671insPro
NM_001079812.2:c.2009_2010insACC	NP_001073280.1:p.Pro670_Pro671insPro
NM_001314007.1:c.2036_2037insACC	NP_001300936.1:p.Pro679_Pro680insPro
NM_005219.4:c.2036_2037insACC	NP_005210.3:p.Pro679_Pro680insPro
XM_011537572.1:c.2000_2001insACC	XP_011535874.1:p.Pro667_Pro668insPro
XM_011537573.1:c.1970_1971insACC	XP_011535875.1:p.Pro657_Pro658insPro
XM_024454384.1:c.2036_2037insACC	XP_024310152.1:p.Pro679_Pro680insPro
XM_024454385.1:c.2009_2010insACC	XP_024310153.1:p.Pro670_Pro671insPro
XM_024454386.1:c.2000_2001insACC	XP_024310154.1:p.Pro667_Pro668insPro
XM_024454387.1:c.1970_1971insACC	XP_024310155.1:p.Pro657_Pro658insPro
NM_005219.5:c.2036_2037insACC MANE Select	NP_005210.3:p.Pro679_Pro680insPro
NM_001079812.3:c.2009_2010insACC	NP_001073280.1:p.Pro670_Pro671insPro
NM_001314007.2:c.2036_2037insACC	NP_001300936.1:p.Pro679_Pro680insPro