Canonical Allele Identifier: CA8016287
Gene: SETD1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30958860_30958863dup , CM000678.2:g.30958860_30958863dup GRCh38
NC_000016.9:g.30970181_30970184dup , CM000678.1:g.30970181_30970184dup GRCh37
NC_000016.8:g.30877682_30877685dup NCBI36
NG_052948.1:g.6567_6570dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.129_132dup ENSP00000518195.1:p.Val45TrpfsTer?
ENST00000452917.3:c.129_132dup ENSP00000391408.3:p.Val45TrpfsTer?
ENST00000682768.1:c.129_132dup ENSP00000508271.1:p.Val45TrpfsTer?
ENST00000684162.1:c.129_132dup ENSP00000507683.1:p.Val45TrpfsTer?
ENST00000262519.14:c.129_132dup MANE Select ENSP00000262519.8:p.Val45TrpfsTer?
ENST00000452917.2:c.107_110dup ENSP00000391408.2:p.Glu37AspfsTer?
ENST00000262519.12:c.129_132dup ENSP00000262519.8:p.Val45TrpfsTer?
ENST00000452917.1:c.129_132dup ENSP00000391408.1:p.Val45TrpfsTer?
NM_014712.2:c.129_132dup NP_055527.1:p.Val45TrpfsTer?
XM_005255723.1:c.129_132dup XP_005255780.1:p.Val45TrpfsTer?
XM_006721106.2:c.129_132dup XP_006721169.1:p.Val45TrpfsTer?
XM_011545994.1:c.129_132dup XP_011544296.1:p.Val45TrpfsTer?
XM_011545995.1:c.129_132dup XP_011544297.1:p.Val45TrpfsTer?
XM_011545996.1:c.129_132dup XP_011544298.1:p.Val45TrpfsTer?
XM_006721106.3:c.129_132dup XP_006721169.1:p.Val45TrpfsTer?
XM_017023909.1:c.129_132dup XP_016879398.1:p.Val45TrpfsTer?
XM_024450499.1:c.129_132dup XP_024306267.1:p.Val45TrpfsTer?
NM_014712.3:c.129_132dup MANE Select NP_055527.1:p.Val45TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'