Canonical Allele Identifier: CA6417683
Community Standard Title: NM_002075.4(GNB3):c.855_856dup (p.Phe286TyrfsTer16)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845741_6845742dup , CM000674.2:g.6845741_6845742dup GRCh38
NC_000012.11:g.6954905_6954906dup , CM000674.1:g.6954905_6954906dup GRCh37
NC_000012.10:g.6825166_6825167dup NCBI36
NG_009100.1:g.10531_10532dup
NG_009100.2:g.10531_10532dup

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.855_856dup (GNB3) MANE Select NP_002066.1:p.Phe286TyrfsTer16
ENST00000229264.8:c.855_856dup (GNB3) MANE Select ENSP00000229264.3:p.Phe286TyrfsTer16
NM_001297571.1:c.852_853dup (GNB3) NP_001284500.1:p.Phe285TyrfsTer16
NM_001297571.2:c.852_853dup (GNB3) NP_001284500.1:p.Phe285TyrfsTer16
NM_001297603.3:c.*1047_*1048dup (CDCA3) NP_001284532.1:n.*1047_*1048dup
NM_002075.3:c.855_856dup (GNB3) NP_002066.1:p.Phe286TyrfsTer16
ENST00000229264.7:c.855_856dup (GNB3) ENSP00000229264.3:p.Phe286TyrfsTer16
ENST00000422785.7:c.*1047_*1048dup (CDCA3) ENSP00000415142.2:n.*1047_*1048dup
ENST00000435982.6:c.852_853dup (GNB3) ENSP00000414734.2:p.Phe285TyrfsTer16
ENST00000537035.1:c.732_733dup (GNB3) ENSP00000445967.1:p.Phe245TyrfsTer16
ENST00000540458.5:n.2206_2207dup (GNB3)
ENST00000542751.1:n.375_376dup (GNB3)
ENST00000603043.1:n.1113_1114dup (CDCA3)
ENST00000604599.1:n.1975_1976dup (CDCA3)
XM_011520953.1:c.855_856dup (GNB3) XP_011519255.1:p.Phe286TyrfsTer16
XM_011520953.3:c.855_856dup (GNB3) XP_011519255.1:p.Phe286TyrfsTer16
XM_011520954.1:c.852_853dup (GNB3) XP_011519256.1:p.Phe285TyrfsTer16
XM_011521027.1:c.*1788_*1789dup (CDCA3) XP_011519329.1:n.*1788_*1789dup
XM_011521028.1:c.*1788_*1789dup (CDCA3) XP_011519330.1:n.*1788_*1789dup
XM_011521029.1:c.*2006_*2007dup (CDCA3) XP_011519331.1:n.*2006_*2007dup
XM_011521030.1:c.*1939_*1940dup (CDCA3) XP_011519332.1:n.*1939_*1940dup
XR_001748879.2:n.3333_3334dup (CDCA3)
XR_001748880.2:n.2684_2685dup (CDCA3)
XR_001748881.2:n.2593_2594dup (CDCA3)
XR_002957383.1:n.2835_2836dup (CDCA3)
XR_002957384.1:n.3746_3747dup (CDCA3)
XR_002957385.1:n.3226_3227dup (CDCA3)