Canonical Allele Identifier: CA8016875
Gene: SETD1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30966085_30966086del , CM000678.2:g.30966085_30966086del GRCh38
NC_000016.9:g.30977406_30977407del , CM000678.1:g.30977406_30977407del GRCh37
NC_000016.8:g.30884907_30884908del NCBI36
NG_052948.1:g.13792_13793del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.2204_2205del ENSP00000518195.1:p.Gln735ArgfsTer?
ENST00000684162.1:c.2204_2205del ENSP00000507683.1:p.Gln735ArgfsTer?
ENST00000262519.14:c.2204_2205del MANE Select ENSP00000262519.8:p.Gln735ArgfsTer?
ENST00000262519.12:c.2204_2205del ENSP00000262519.8:p.Gln735ArgfsTer?
NM_014712.2:c.2204_2205del NP_055527.1:p.Gln735ArgfsTer?
XM_005255723.1:c.2204_2205del XP_005255780.1:p.Gln735ArgfsTer?
XM_006721106.2:c.2204_2205del XP_006721169.1:p.Gln735ArgfsTer?
XM_011545994.1:c.2204_2205del XP_011544296.1:p.Gln735ArgfsTer?
XM_011545995.1:c.2204_2205del XP_011544297.1:p.Gln735ArgfsTer?
XM_011545996.1:c.2204_2205del XP_011544298.1:p.Gln735ArgfsTer?
XM_006721106.3:c.2204_2205del XP_006721169.1:p.Gln735ArgfsTer?
XM_017023909.1:c.2204_2205del XP_016879398.1:p.Gln735ArgfsTer?
XM_024450499.1:c.2204_2205del XP_024306267.1:p.Gln735ArgfsTer?
NM_014712.3:c.2204_2205del MANE Select NP_055527.1:p.Gln735ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'