Canonical Allele Identifier: CA563502844
Gene: DIAPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1368022066

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573783_141573785del , CM000667.2:g.141573783_141573785del GRCh38
NC_000005.9:g.140953350_140953352del , CM000667.1:g.140953350_140953352del GRCh37
NC_000005.8:g.140933534_140933536del NCBI36
NG_011594.1:g.50279_50281del
NG_011594.2:g.50279_50281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2073_2075del MANE Select ENSP00000373706.4:p.Pro692del
ENST00000647433.1:c.2073_2075del ENSP00000494675.1:p.Pro692del
ENST00000253811.10:c.1941_1943del ENSP00000253811.7:p.Pro648del
ENST00000389054.7:c.2073_2075del ENSP00000373706.4:p.Pro692del
ENST00000389057.9:c.2046_2048del ENSP00000373709.6:p.Pro683del
ENST00000398557.8:c.2073_2075del ENSP00000381565.5:p.Pro692del
ENST00000518047.5:c.2046_2048del ENSP00000428268.2:p.Pro683del
NM_001079812.2:c.2046_2048del NP_001073280.1:p.Pro683del
NM_001314007.1:c.2073_2075del NP_001300936.1:p.Pro692del
NM_005219.4:c.2073_2075del NP_005210.3:p.Pro692del
XM_011537572.1:c.2037_2039del XP_011535874.1:p.Pro680del
XM_011537573.1:c.2007_2009del XP_011535875.1:p.Pro670del
XM_024454384.1:c.2073_2075del XP_024310152.1:p.Pro692del
XM_024454385.1:c.2046_2048del XP_024310153.1:p.Pro683del
XM_024454386.1:c.2037_2039del XP_024310154.1:p.Pro680del
XM_024454387.1:c.2007_2009del XP_024310155.1:p.Pro670del
NM_005219.5:c.2073_2075del MANE Select NP_005210.3:p.Pro692del
NM_001079812.3:c.2046_2048del NP_001073280.1:p.Pro683del
NM_001314007.2:c.2073_2075del NP_001300936.1:p.Pro692del