Canonical Allele Identifier: CA1587247366
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573744_141573783delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT , CM000667.2:g.141573744_141573783delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT GRCh38
NC_000005.9:g.140953311_140953350delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT , CM000667.1:g.140953311_140953350delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT GRCh37
NC_000005.8:g.140933495_140933534delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT NCBI36
NG_011594.1:g.50273_50312delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC
NG_011594.2:g.50273_50312delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC MANE Select ENSP00000373706.4:p.Pro689=
ENST00000647433.1:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000494675.1:p.Pro689=
ENST00000253811.10:c.1935_1974delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000253811.7:p.Pro645=
ENST00000389054.7:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000373706.4:p.Pro689=
ENST00000389057.9:c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000373709.6:p.Pro680=
ENST00000398557.8:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000381565.5:p.Pro689=
ENST00000518047.5:c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC ENSP00000428268.2:p.Pro680=
NM_001079812.2:c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC NP_001073280.1:p.Pro680=
NM_001314007.1:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC NP_001300936.1:p.Pro689=
NM_005219.4:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC NP_005210.3:p.Pro689=
XM_011537572.1:c.2031_2070delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_011535874.1:p.Pro677=
XM_011537573.1:c.2001_2040delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_011535875.1:p.Pro667=
XM_024454384.1:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_024310152.1:p.Pro689=
XM_024454385.1:c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_024310153.1:p.Pro680=
XM_024454386.1:c.2031_2070delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_024310154.1:p.Pro677=
XM_024454387.1:c.2001_2040delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC XP_024310155.1:p.Pro667=
NM_005219.5:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC MANE Select NP_005210.3:p.Pro689=
NM_001079812.3:c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC NP_001073280.1:p.Pro680=
NM_001314007.2:c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC NP_001300936.1:p.Pro689=