Canonical Allele Identifier: CA16603267
Gene: TCF12 HGNC NCBI

Linked Data

ClinVar Variation Id: 377099
ClinVar RCV Id: RCV000440265
dbSNP Id: rs1057520132

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.57262116_57262117dup , CM000677.2:g.57262116_57262117dup GRCh38
NC_000015.9:g.57554314_57554315dup , CM000677.1:g.57554314_57554315dup GRCh37
NC_000015.8:g.55341606_55341607dup NCBI36
NG_033851.1:g.348482_348483dup
NG_033851.2:g.349027_349028dup

Transcript Alleles

HGVS Amino-acid change
ENST00000333725.10:c.1490_1491dup MANE Select ENSP00000331057.6:p.Val498LeufsTer22
ENST00000267811.9:c.1418_1419dup ENSP00000267811.5:p.Val474LeufsTer22
ENST00000333725.9:c.1490_1491dup ENSP00000331057.5:p.Val498LeufsTer22
ENST00000343827.7:c.908_909dup ENSP00000342459.3:p.Val304LeufsTer22
ENST00000438423.6:c.1490_1491dup ENSP00000388940.2:p.Val498LeufsTer22
ENST00000537840.5:c.710_711dup ENSP00000444696.1:p.Val238LeufsTer22
ENST00000543579.5:c.980_981dup ENSP00000440017.1:p.Val328LeufsTer22
ENST00000557843.5:c.1418_1419dup ENSP00000453737.1:p.Val474LeufsTer22
ENST00000558210.5:n.557_558dup
ENST00000559609.5:c.1478_1479dup ENSP00000453876.1:p.Val494LeufsTer22
ENST00000559703.1:c.392_393dup ENSP00000454102.1:p.Val132LeufsTer22
ENST00000559710.5:c.320_321dup ENSP00000453264.1:p.Val108LeufsTer22
ENST00000560190.5:n.403-10914_403-10913dup
ENST00000560506.5:n.370_371dup
ENST00000561420.5:n.416_417dup
ENST00000561449.1:n.524_525dup
NM_001306219.1:c.980_981dup NP_001293148.1:p.Val328LeufsTer22
NM_001306220.1:c.710_711dup NP_001293149.1:p.Val238LeufsTer22
NM_003205.3:c.1418_1419dup NP_003196.1:p.Val474LeufsTer22
NM_207036.1:c.1490_1491dup NP_996919.1:p.Val498LeufsTer22
NM_207037.1:c.1490_1491dup NP_996920.1:p.Val498LeufsTer22
NM_207038.1:c.1418_1419dup NP_996921.1:p.Val474LeufsTer22
NM_207040.1:c.908_909dup NP_996923.1:p.Val304LeufsTer22
XM_005254613.3:c.1316_1317dup XP_005254670.1:p.Val440LeufsTer22
XM_011521959.1:c.1526_1527dup XP_011520261.1:p.Val510LeufsTer22
XM_011521960.1:c.1526_1527dup XP_011520262.1:p.Val510LeufsTer22
XM_011521961.1:c.1526_1527dup XP_011520263.1:p.Val510LeufsTer22
XM_011521962.1:c.1454_1455dup XP_011520264.1:p.Val486LeufsTer22
XM_011521963.1:c.1454_1455dup XP_011520265.1:p.Val486LeufsTer22
XM_011521965.1:c.842_843dup XP_011520267.1:p.Val282LeufsTer22
XM_011521966.1:c.782_783dup XP_011520268.1:p.Val262LeufsTer22
XM_011521967.1:c.770_771dup XP_011520269.1:p.Val258LeufsTer22
XM_011521969.1:c.908_909dup XP_011520271.1:p.Val304LeufsTer22
NM_001306219.2:c.980_981dup NP_001293148.1:p.Val328LeufsTer22
NM_001306220.2:c.710_711dup NP_001293149.1:p.Val238LeufsTer22
NM_001322151.1:c.1490_1491dup NP_001309080.1:p.Val498LeufsTer22
NM_001322152.1:c.1490_1491dup NP_001309081.1:p.Val498LeufsTer22
NM_001322154.1:c.833_834dup NP_001309083.1:p.Val279LeufsTer22
NM_001322156.1:c.1316_1317dup NP_001309085.1:p.Val440LeufsTer22
NM_001322157.1:c.1418_1419dup NP_001309086.1:p.Val474LeufsTer22
NM_001322158.1:c.1244_1245dup NP_001309087.1:p.Val416LeufsTer22
NM_001322159.1:c.1490_1491dup NP_001309088.1:p.Val498LeufsTer22
NM_001322161.1:c.1487_1488dup NP_001309090.1:p.Val497LeufsTer22
NM_001322162.1:c.1490_1491dup NP_001309091.1:p.Val498LeufsTer22
NM_001322164.1:c.1454_1455dup NP_001309093.1:p.Val486LeufsTer22
NM_001322165.1:c.1418_1419dup NP_001309094.1:p.Val474LeufsTer22
XM_011521959.3:c.1526_1527dup XP_011520261.1:p.Val510LeufsTer22
XM_011521960.3:c.1526_1527dup XP_011520262.1:p.Val510LeufsTer22
XM_011521961.3:c.1526_1527dup XP_011520263.1:p.Val510LeufsTer22
XM_011521962.3:c.1454_1455dup XP_011520264.1:p.Val486LeufsTer22
XM_011521963.3:c.1454_1455dup XP_011520265.1:p.Val486LeufsTer22
XM_011521965.2:c.842_843dup XP_011520267.1:p.Val282LeufsTer22
XM_011521966.2:c.782_783dup XP_011520268.1:p.Val262LeufsTer22
XM_011521967.2:c.770_771dup XP_011520269.1:p.Val258LeufsTer22
XM_017022520.2:c.1418_1419dup XP_016878009.1:p.Val474LeufsTer22
NM_001306219.3:c.980_981dup NP_001293148.1:p.Val328LeufsTer22
NM_001306220.3:c.710_711dup NP_001293149.1:p.Val238LeufsTer22
NM_001322152.2:c.1490_1491dup NP_001309081.1:p.Val498LeufsTer22
NM_001322154.2:c.833_834dup NP_001309083.1:p.Val279LeufsTer22
NM_001322156.2:c.1316_1317dup NP_001309085.1:p.Val440LeufsTer22
NM_001322157.2:c.1418_1419dup NP_001309086.1:p.Val474LeufsTer22
NM_001322158.2:c.1244_1245dup NP_001309087.1:p.Val416LeufsTer22
NM_001322159.2:c.1490_1491dup NP_001309088.1:p.Val498LeufsTer22
NM_001322161.2:c.1487_1488dup NP_001309090.1:p.Val497LeufsTer22
NM_001322162.2:c.1490_1491dup NP_001309091.1:p.Val498LeufsTer22
NM_001322164.2:c.1454_1455dup NP_001309093.1:p.Val486LeufsTer22
NM_001322165.2:c.1418_1419dup NP_001309094.1:p.Val474LeufsTer22
NM_003205.4:c.1418_1419dup NP_003196.1:p.Val474LeufsTer22
NM_207036.2:c.1490_1491dup NP_996919.1:p.Val498LeufsTer22
NM_207037.2:c.1490_1491dup MANE Select NP_996920.1:p.Val498LeufsTer22
NM_207038.2:c.1418_1419dup NP_996921.1:p.Val474LeufsTer22
NM_207040.2:c.908_909dup NP_996923.1:p.Val304LeufsTer22
NM_001322151.2:c.1490_1491dup NP_001309080.1:p.Val498LeufsTer22
NM_001322157.3:c.1418_1419dup NP_001309086.1:p.Val474LeufsTer22
NM_001322159.3:c.1490_1491dup NP_001309088.1:p.Val498LeufsTer22