Canonical Allele Identifier: CA2580615015
Community Standard Title: NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561PhefsTer?)
Gene: SAMHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36897888_36897889del , CM000682.2:g.36897888_36897889del GRCh38
NC_000020.10:g.35526291_35526292del , CM000682.1:g.35526291_35526292del GRCh37
NC_000020.9:g.34959705_34959706del NCBI36
NG_017059.1:g.58957_58958del , LRG_281:g.58957_58958del

Transcript Alleles

HGVS Amino-acid Change
NM_015474.4:c.1681_1682del MANE Select NP_056289.2:p.Ser561PhefsTer?
ENST00000646673.2:c.1681_1682del MANE Select ENSP00000493536.2:p.Ser561PhefsTer?
NM_001363729.1:c.1576_1577del NP_001350658.1:p.Ser526PhefsTer?
NM_001363729.2:c.1576_1577del NP_001350658.1:p.Ser526PhefsTer?
NM_001363733.1:c.1681_1682del NP_001350662.1:p.Ser561PhefsTer?
NM_001363733.2:c.1681_1682del NP_001350662.1:p.Ser561PhefsTer?
NM_015474.3:c.1681_1682del , LRG_281t1:c.1681_1682del NP_056289.2:p.Ser561PhefsTer?
ENST00000262878.4:c.1681_1682del ENSP00000262878.4:p.Ser561PhefsTer?
ENST00000262878.5:c.1576_1577del ENSP00000262878.5:p.Ser526PhefsTer?
ENST00000465985.1:n.197_198del
ENST00000465985.2:c.197_198del
ENST00000642186.1:c.*1985_*1986del ENSP00000494436.1:n.*1985_*1986del
ENST00000642246.1:c.*1360_*1361del ENSP00000494979.1:n.*1360_*1361del
ENST00000643825.1:c.304_305del ENSP00000495448.1:p.Ser102PhefsTer?
ENST00000643918.1:c.1681_1682del ENSP00000493928.1:p.Ser561PhefsTer?
ENST00000644114.1:c.1374_1375del
ENST00000644114.2:c.1448_1449del ENSP00000494354.2:n.1448_1449del
ENST00000644250.2:c.1576_1577del ENSP00000493810.2:p.Ser526PhefsTer?
ENST00000645033.1:c.*858_*859del ENSP00000494520.1:n.*858_*859del
ENST00000646066.1:c.1471_1472del ENSP00000495432.1:p.Ser491PhefsTer?
ENST00000646869.1:c.1681_1682del ENSP00000495667.1:p.Ser561PhefsTer?
ENST00000646904.1:c.*887_*888del ENSP00000494823.1:n.*887_*888del
ENST00000647095.1:n.2879_2880del
ENST00000647163.1:c.*858_*859del ENSP00000494313.1:n.*858_*859del
ENST00000647459.1:n.2730_2731del
ENST00000682773.1:c.1681_1682del ENSP00000507178.1:p.Ser561PhefsTer?
ENST00000683720.1:c.1719_1720del ENSP00000508219.1:n.1719_1720del
ENST00000683766.1:c.1681_1682del ENSP00000506877.1:p.Ser561PhefsTer?
XM_005260384.2:c.1576_1577del XP_005260441.1:p.Ser526PhefsTer?
XM_011528761.1:c.1681_1682del XP_011527063.1:p.Ser561PhefsTer?