Canonical Allele Identifier: CA2580089816
Community Standard Title: NM_207037.2(TCF12):c.1621_1622del (p.Glu541AsnfsTer4)
Gene: TCF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.57263150_57263151del , CM000677.2:g.57263150_57263151del GRCh38
NC_000015.9:g.57555348_57555349del , CM000677.1:g.57555348_57555349del GRCh37
NC_000015.8:g.55342640_55342641del NCBI36
NG_033851.1:g.349516_349517del
NG_033851.2:g.350061_350062del

Transcript Alleles

HGVS Amino-acid Change
NM_207037.2:c.1621_1622del MANE Select NP_996920.1:p.Glu541AsnfsTer4
ENST00000333725.10:c.1621_1622del MANE Select ENSP00000331057.6:p.Glu541AsnfsTer4
NM_001306219.1:c.1111_1112del NP_001293148.1:p.Glu371AsnfsTer4
NM_001306219.2:c.1111_1112del NP_001293148.1:p.Glu371AsnfsTer4
NM_001306219.3:c.1111_1112del NP_001293148.1:p.Glu371AsnfsTer4
NM_001306220.1:c.841_842del NP_001293149.1:p.Glu281AsnfsTer4
NM_001306220.2:c.841_842del NP_001293149.1:p.Glu281AsnfsTer4
NM_001306220.3:c.841_842del NP_001293149.1:p.Glu281AsnfsTer4
NM_001322151.1:c.1621_1622del NP_001309080.1:p.Glu541AsnfsTer4
NM_001322151.2:c.1621_1622del NP_001309080.1:p.Glu541AsnfsTer4
NM_001322152.1:c.1621_1622del NP_001309081.1:p.Glu541AsnfsTer4
NM_001322152.2:c.1621_1622del NP_001309081.1:p.Glu541AsnfsTer4
NM_001322154.1:c.964_965del NP_001309083.1:p.Glu322AsnfsTer4
NM_001322154.2:c.964_965del NP_001309083.1:p.Glu322AsnfsTer4
NM_001322156.1:c.1447_1448del NP_001309085.1:p.Glu483AsnfsTer4
NM_001322156.2:c.1447_1448del NP_001309085.1:p.Glu483AsnfsTer4
NM_001322157.1:c.1549_1550del NP_001309086.1:p.Glu517AsnfsTer4
NM_001322157.2:c.1549_1550del NP_001309086.1:p.Glu517AsnfsTer4
NM_001322157.3:c.1549_1550del NP_001309086.1:p.Glu517AsnfsTer4
NM_001322158.1:c.1375_1376del NP_001309087.1:p.Glu459AsnfsTer4
NM_001322158.2:c.1375_1376del NP_001309087.1:p.Glu459AsnfsTer4
NM_001322159.1:c.1621_1622del NP_001309088.1:p.Glu541AsnfsTer4
NM_001322159.2:c.1621_1622del NP_001309088.1:p.Glu541AsnfsTer4
NM_001322159.3:c.1621_1622del NP_001309088.1:p.Glu541AsnfsTer4
NM_001322161.1:c.1618_1619del NP_001309090.1:p.Glu540AsnfsTer4
NM_001322161.2:c.1618_1619del NP_001309090.1:p.Glu540AsnfsTer4
NM_001322162.1:c.1621_1622del NP_001309091.1:p.Glu541AsnfsTer4
NM_001322162.2:c.1621_1622del NP_001309091.1:p.Glu541AsnfsTer4
NM_001322164.1:c.1585_1586del NP_001309093.1:p.Glu529AsnfsTer4
NM_001322164.2:c.1585_1586del NP_001309093.1:p.Glu529AsnfsTer4
NM_001322165.1:c.1549_1550del NP_001309094.1:p.Glu517AsnfsTer4
NM_001322165.2:c.1549_1550del NP_001309094.1:p.Glu517AsnfsTer4
NM_003205.3:c.1549_1550del NP_003196.1:p.Glu517AsnfsTer4
NM_003205.4:c.1549_1550del NP_003196.1:p.Glu517AsnfsTer4
NM_207036.1:c.1621_1622del NP_996919.1:p.Glu541AsnfsTer4
NM_207036.2:c.1621_1622del NP_996919.1:p.Glu541AsnfsTer4
NM_207037.1:c.1621_1622del NP_996920.1:p.Glu541AsnfsTer4
NM_207038.1:c.1549_1550del NP_996921.1:p.Glu517AsnfsTer4
NM_207038.2:c.1549_1550del NP_996921.1:p.Glu517AsnfsTer4
NM_207040.1:c.1039_1040del NP_996923.1:p.Glu347AsnfsTer4
NM_207040.2:c.1039_1040del NP_996923.1:p.Glu347AsnfsTer4
ENST00000267811.9:c.1549_1550del ENSP00000267811.5:p.Glu517AsnfsTer4
ENST00000333725.9:c.1621_1622del ENSP00000331057.5:p.Glu541AsnfsTer4
ENST00000343827.7:c.1039_1040del ENSP00000342459.3:p.Glu347AsnfsTer4
ENST00000438423.6:c.1621_1622del ENSP00000388940.2:p.Glu541AsnfsTer4
ENST00000537840.5:c.841_842del ENSP00000444696.1:p.Glu281AsnfsTer4
ENST00000543579.5:c.1111_1112del ENSP00000440017.1:p.Glu371AsnfsTer4
ENST00000557843.5:c.1549_1550del ENSP00000453737.1:p.Glu517AsnfsTer4
ENST00000559609.5:c.1609_1610del ENSP00000453876.1:p.Glu537AsnfsTer4
ENST00000559703.1:c.523_524del ENSP00000454102.1:p.Glu175AsnfsTer4
ENST00000559710.5:c.451_452del ENSP00000453264.1:p.Glu151AsnfsTer4
ENST00000560190.5:n.403-9880_403-9879del
ENST00000560506.5:n.501_502del
ENST00000561420.5:n.547_548del
ENST00000561449.1:n.655_656del
XM_005254613.3:c.1447_1448del XP_005254670.1:p.Glu483AsnfsTer4
XM_011521959.1:c.1657_1658del XP_011520261.1:p.Glu553AsnfsTer4
XM_011521959.3:c.1657_1658del XP_011520261.1:p.Glu553AsnfsTer4
XM_011521960.1:c.1657_1658del XP_011520262.1:p.Glu553AsnfsTer4
XM_011521960.3:c.1657_1658del XP_011520262.1:p.Glu553AsnfsTer4
XM_011521961.1:c.1657_1658del XP_011520263.1:p.Glu553AsnfsTer4
XM_011521961.3:c.1657_1658del XP_011520263.1:p.Glu553AsnfsTer4
XM_011521962.1:c.1585_1586del XP_011520264.1:p.Glu529AsnfsTer4
XM_011521962.3:c.1585_1586del XP_011520264.1:p.Glu529AsnfsTer4
XM_011521963.1:c.1585_1586del XP_011520265.1:p.Glu529AsnfsTer4
XM_011521963.3:c.1585_1586del XP_011520265.1:p.Glu529AsnfsTer4
XM_011521965.1:c.973_974del XP_011520267.1:p.Glu325AsnfsTer4
XM_011521965.2:c.973_974del XP_011520267.1:p.Glu325AsnfsTer4
XM_011521966.1:c.913_914del XP_011520268.1:p.Glu305AsnfsTer4
XM_011521966.2:c.913_914del XP_011520268.1:p.Glu305AsnfsTer4
XM_011521967.1:c.901_902del XP_011520269.1:p.Glu301AsnfsTer4
XM_011521967.2:c.901_902del XP_011520269.1:p.Glu301AsnfsTer4
XM_011521969.1:c.1039_1040del XP_011520271.1:p.Glu347AsnfsTer4
XM_017022520.2:c.1549_1550del XP_016878009.1:p.Glu517AsnfsTer4