Canonical Allele Identifier: CA915941443
Community Standard Title: NM_025207.5(FLAD1):c.1389_1398del (p.Glu464Ter)
Gene: FLAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154990363_154990372del , CM000663.2:g.154990363_154990372del GRCh38
NC_000001.10:g.154962839_154962848del , CM000663.1:g.154962839_154962848del GRCh37
NC_000001.9:g.153229463_153229472del NCBI36
NG_042310.1:g.12070_12079del

Transcript Alleles

HGVS Amino-acid Change
NM_025207.5:c.1389_1398del MANE Select NP_079483.3:p.Glu464Ter
ENST00000292180.8:c.1389_1398del MANE Select ENSP00000292180.3:p.Glu464Ter
NM_001184891.1:c.1098_1107del NP_001171820.1:p.Glu367Ter
NM_001184891.2:c.1098_1107del NP_001171820.1:p.Glu367Ter
NM_025207.4:c.1389_1398del NP_079483.3:p.Glu464Ter
NM_201398.2:c.1098_1107del NP_958800.1:p.Glu367Ter
NM_201398.3:c.1098_1107del NP_958800.1:p.Glu367Ter
ENST00000292180.7:c.1389_1398del ENSP00000292180.3:p.Glu464Ter
ENST00000295530.6:c.415+106_415+115del ENSP00000295530.2:n.415+106_415+115del
ENST00000315144.14:c.1098_1107del ENSP00000317296.10:p.Glu367Ter
ENST00000368428.1:c.12_21del ENSP00000357413.1:p.Glu5Ter
ENST00000368432.5:c.1098_1107del ENSP00000357417.1:p.Glu367Ter
ENST00000368433.5:c.*99_*108del ENSP00000357418.1:n.*99_*108del
ENST00000477609.5:n.70_79del
ENST00000489992.5:n.364+106_364+115del
XM_005245502.2:c.1098_1107del XP_005245559.1:p.Glu367Ter
XM_005245503.2:c.588_597del XP_005245560.1:p.Glu197Ter
XR_241098.3:n.1159_1168del