Canonical Allele Identifier: CA2675691811

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141573989-AAGGAGGTGGAGGAGGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573996_141574013del , CM000667.2:g.141573996_141574013del	GRCh38
NC_000005.9:g.140953563_140953580del , CM000667.1:g.140953563_140953580del	GRCh37
NC_000005.8:g.140933747_140933764del	NCBI36
NG_011594.1:g.50049_50066del
NG_011594.2:g.50049_50066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1843_1860del MANE Select	ENSP00000373706.4:p.Pro615_Pro620del
ENST00000647433.1:c.1843_1860del	ENSP00000494675.1:p.Pro615_Pro620del
ENST00000253811.10:c.1711_1728del	ENSP00000253811.7:p.Pro571_Pro576del
ENST00000389054.7:c.1843_1860del	ENSP00000373706.4:p.Pro615_Pro620del
ENST00000389057.9:c.1816_1833del	ENSP00000373709.6:p.Pro606_Pro611del
ENST00000398557.8:c.1843_1860del	ENSP00000381565.5:p.Pro615_Pro620del
ENST00000518047.5:c.1816_1833del	ENSP00000428268.2:p.Pro606_Pro611del
NM_001079812.2:c.1816_1833del	NP_001073280.1:p.Pro606_Pro611del
NM_001314007.1:c.1843_1860del	NP_001300936.1:p.Pro615_Pro620del
NM_005219.4:c.1843_1860del	NP_005210.3:p.Pro615_Pro620del
XM_011537572.1:c.1807_1824del	XP_011535874.1:p.Pro603_Pro608del
XM_011537573.1:c.1777_1794del	XP_011535875.1:p.Pro593_Pro598del
XM_024454384.1:c.1843_1860del	XP_024310152.1:p.Pro615_Pro620del
XM_024454385.1:c.1816_1833del	XP_024310153.1:p.Pro606_Pro611del
XM_024454386.1:c.1807_1824del	XP_024310154.1:p.Pro603_Pro608del
XM_024454387.1:c.1777_1794del	XP_024310155.1:p.Pro593_Pro598del
NM_005219.5:c.1843_1860del MANE Select	NP_005210.3:p.Pro615_Pro620del
NM_001079812.3:c.1816_1833del	NP_001073280.1:p.Pro606_Pro611del
NM_001314007.2:c.1843_1860del	NP_001300936.1:p.Pro615_Pro620del