Canonical Allele Identifier: CA354204
Gene: SETD1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30965014del , CM000678.2:g.30965014del GRCh38
NC_000016.9:g.30976335del , CM000678.1:g.30976335del GRCh37
NC_000016.8:g.30883836del NCBI36
NG_052948.1:g.12721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.1272del ENSP00000518195.1:p.Tyr425ThrfsTer?
ENST00000684162.1:c.1272del ENSP00000507683.1:p.Tyr425ThrfsTer?
ENST00000262519.14:c.1272del MANE Select ENSP00000262519.8:p.Tyr425ThrfsTer?
ENST00000262519.12:c.1272del ENSP00000262519.8:p.Tyr425ThrfsTer?
NM_014712.2:c.1272del NP_055527.1:p.Tyr425ThrfsTer?
XM_005255723.1:c.1272del XP_005255780.1:p.Tyr425ThrfsTer?
XM_006721106.2:c.1272del XP_006721169.1:p.Tyr425ThrfsTer?
XM_011545994.1:c.1272del XP_011544296.1:p.Tyr425ThrfsTer?
XM_011545995.1:c.1272del XP_011544297.1:p.Tyr425ThrfsTer?
XM_011545996.1:c.1272del XP_011544298.1:p.Tyr425ThrfsTer?
XM_006721106.3:c.1272del XP_006721169.1:p.Tyr425ThrfsTer?
XM_017023909.1:c.1272del XP_016879398.1:p.Tyr425ThrfsTer?
XM_024450499.1:c.1272del XP_024306267.1:p.Tyr425ThrfsTer?
NM_014712.3:c.1272del MANE Select NP_055527.1:p.Tyr425ThrfsTer?