Canonical Allele Identifier: CA2675691743

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573785-G-GTGGTGGTGGTGGTGGTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573785_141573786insTGGTGGTGGTGGTGGTGGT , CM000667.2:g.141573785_141573786insTGGTGGTGGTGGTGGTGGT	GRCh38
NC_000005.9:g.140953352_140953353insTGGTGGTGGTGGTGGTGGT , CM000667.1:g.140953352_140953353insTGGTGGTGGTGGTGGTGGT	GRCh37
NC_000005.8:g.140933536_140933537insTGGTGGTGGTGGTGGTGGT	NCBI36
NG_011594.1:g.50270_50271insACCACCACCACCACCACCA
NG_011594.2:g.50270_50271insACCACCACCACCACCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2064_2065insACCACCACCACCACCACCA MANE Select	ENSP00000373706.4:p.Pro689ThrfsTer?
ENST00000647433.1:c.2064_2065insACCACCACCACCACCACCA	ENSP00000494675.1:p.Pro689ThrfsTer?
ENST00000253811.10:c.1932_1933insACCACCACCACCACCACCA	ENSP00000253811.7:p.Pro645ThrfsTer?
ENST00000389054.7:c.2064_2065insACCACCACCACCACCACCA	ENSP00000373706.4:p.Pro689ThrfsTer?
ENST00000389057.9:c.2037_2038insACCACCACCACCACCACCA	ENSP00000373709.6:p.Pro680ThrfsTer?
ENST00000398557.8:c.2064_2065insACCACCACCACCACCACCA	ENSP00000381565.5:p.Pro689ThrfsTer?
ENST00000518047.5:c.2037_2038insACCACCACCACCACCACCA	ENSP00000428268.2:p.Pro680ThrfsTer?
NM_001079812.2:c.2037_2038insACCACCACCACCACCACCA	NP_001073280.1:p.Pro680ThrfsTer?
NM_001314007.1:c.2064_2065insACCACCACCACCACCACCA	NP_001300936.1:p.Pro689ThrfsTer?
NM_005219.4:c.2064_2065insACCACCACCACCACCACCA	NP_005210.3:p.Pro689ThrfsTer?
XM_011537572.1:c.2028_2029insACCACCACCACCACCACCA	XP_011535874.1:p.Pro677ThrfsTer?
XM_011537573.1:c.1998_1999insACCACCACCACCACCACCA	XP_011535875.1:p.Pro667ThrfsTer?
XM_024454384.1:c.2064_2065insACCACCACCACCACCACCA	XP_024310152.1:p.Pro689ThrfsTer?
XM_024454385.1:c.2037_2038insACCACCACCACCACCACCA	XP_024310153.1:p.Pro680ThrfsTer?
XM_024454386.1:c.2028_2029insACCACCACCACCACCACCA	XP_024310154.1:p.Pro677ThrfsTer?
XM_024454387.1:c.1998_1999insACCACCACCACCACCACCA	XP_024310155.1:p.Pro667ThrfsTer?
NM_005219.5:c.2064_2065insACCACCACCACCACCACCA MANE Select	NP_005210.3:p.Pro689ThrfsTer?
NM_001079812.3:c.2037_2038insACCACCACCACCACCACCA	NP_001073280.1:p.Pro680ThrfsTer?
NM_001314007.2:c.2064_2065insACCACCACCACCACCACCA	NP_001300936.1:p.Pro689ThrfsTer?