Canonical Allele Identifier: CA2963028217
Community Standard Title: NM_001364171.2(ODAD1):c.1419_1420del (p.Ala474ArgfsTer25)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48298082_48298083del , CM000681.2:g.48298082_48298083del GRCh38
NC_000019.9:g.48801339_48801340del , CM000681.1:g.48801339_48801340del GRCh37
NC_000019.8:g.53493151_53493152del NCBI36
NG_033251.1:g.26993_26994del

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1419_1420del MANE Select NP_001351100.1:p.Ala474ArgfsTer25
ENST00000674294.1:c.1419_1420del MANE Select ENSP00000501363.1:p.Ala474ArgfsTer25
NM_001364171.1:c.1419_1420del NP_001351100.1:p.Ala474ArgfsTer25
NM_144577.3:c.1308_1309del NP_653178.3:p.Ala437ArgfsTer25
NM_144577.4:c.1308_1309del NP_653178.3:p.Ala437ArgfsTer25
ENST00000315396.7:c.1308_1309del ENSP00000318429.7:p.Ala437ArgfsTer25
ENST00000474199.5:n.1436_1437del
ENST00000474199.6:c.1419_1420del ENSP00000501357.1:p.Ala474ArgfsTer25
ENST00000497273.1:n.835_836del
ENST00000674207.1:c.*1112+94_*1112+95del ENSP00000501374.1:n.*1112+94_*1112+95del
XM_005259413.2:c.1419_1420del XP_005259470.1:p.Ala474ArgfsTer25
XM_005259414.2:c.1419_1420del XP_005259471.1:p.Ala474ArgfsTer25
XM_005259414.3:c.1419_1420del XP_005259471.1:p.Ala474ArgfsTer25
XM_005259415.2:c.1419_1420del XP_005259472.1:p.Ala474ArgfsTer25
XM_005259415.3:c.1419_1420del XP_005259472.1:p.Ala474ArgfsTer25
XM_005259416.3:c.735_736del XP_005259473.1:p.Ala246ArgfsTer25
XM_005259416.4:c.735_736del XP_005259473.1:p.Ala246ArgfsTer25
XM_011527515.1:c.1308_1309del XP_011525817.1:p.Ala437ArgfsTer25
XM_011527515.2:c.1308_1309del XP_011525817.1:p.Ala437ArgfsTer25
XM_011527516.1:c.1308_1309del XP_011525818.1:p.Ala437ArgfsTer25
XM_011527516.2:c.1308_1309del XP_011525818.1:p.Ala437ArgfsTer25
XM_017027483.1:c.1143_1144del XP_016882972.1:p.Ala382ArgfsTer25
XM_024451782.1:c.1458_1459del XP_024307550.1:p.Ala487ArgfsTer25
XM_024451783.1:c.1419_1420del XP_024307551.1:p.Ala474ArgfsTer25