Canonical Allele Identifier: CA345493

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12807213dup , CM000681.2:g.12807213dup GRCh38
NC_000019.9:g.12918027dup , CM000681.1:g.12918027dup GRCh37
NC_000019.8:g.12779027dup NCBI36
NG_012662.1:g.5600dup , LRG_278:g.5600dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221486.6:c.207dup (RNASEH2A) MANE Select ENSP00000221486.4:p.Thr70AspfsTer?
ENST00000590121.2:c.204dup (RNASEH2A) ENSP00000495087.1:p.Thr69AspfsTer?
ENST00000590279.2:n.622dup (RNASEH2A)
ENST00000593017.2:n.404dup (RNASEH2A)
ENST00000639767.2:c.*86dup (THSD8) ENSP00000491410.2:n.*86dup
ENST00000643757.1:n.242dup (RNASEH2A)
ENST00000646769.1:c.199+134dup (RNASEH2A) ENSP00000495175.1:n.199+134dup
ENST00000221486.4:c.207dup (RNASEH2A) ENSP00000221486.3:p.Thr70AspfsTer?
ENST00000589765.1:n.41+17965dup (HOOK2)
ENST00000590121.1:n.204dup (RNASEH2A)
ENST00000590279.1:n.404dup (RNASEH2A)
ENST00000593017.1:n.622dup (RNASEH2A)
NM_006397.2:c.207dup , LRG_278t1:c.207dup (RNASEH2A) NP_006388.2:p.Thr70AspfsTer?
XM_006722619.2:c.75dup (RNASEH2A) XP_006722682.1:p.Thr26AspfsTer?
NM_006397.3:c.207dup (RNASEH2A) MANE Select NP_006388.2:p.Thr70AspfsTer?