Canonical Allele Identifier: CA2573148406

Gene: GNB3 CDCA3

Linked Data

• ClinVar Variation Id: 1650633
• ClinVar RCV Id: RCV002149114
• dbSNP Id: rs2137990547

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845459_6845460delinsTT , CM000674.2:g.6845459_6845460delinsTT	GRCh38
NC_000012.11:g.6954623_6954624delinsTT , CM000674.1:g.6954623_6954624delinsTT	GRCh37
NC_000012.10:g.6824884_6824885delinsTT	NCBI36
NG_009100.1:g.10249_10250delinsTT
NG_009100.2:g.10249_10250delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-127_700-126delinsTT (GNB3) MANE Select	ENSP00000229264.3:n.700-127_700-126delinsTT
ENST00000229264.7:c.700-127_700-126delinsTT (GNB3)	ENSP00000229264.3:n.700-127_700-126delinsTT
ENST00000422785.7:c.*1328_*1329delinsAA (CDCA3)	ENSP00000415142.2:n.*1328_*1329delinsAA
ENST00000435982.6:c.697-127_697-126delinsTT (GNB3)	ENSP00000414734.2:n.697-127_697-126delinsTT
ENST00000537035.1:c.577-127_577-126delinsTT (GNB3)	ENSP00000445967.1:n.577-127_577-126delinsTT
ENST00000540458.5:n.2051-127_2051-126delinsTT (GNB3)
ENST00000542751.1:n.93_94delinsTT (GNB3)
ENST00000603043.1:n.1394_1395delinsAA (CDCA3)
ENST00000604599.1:n.2256_2257delinsAA (CDCA3)
NM_001297571.1:c.697-127_697-126delinsTT (GNB3)	NP_001284500.1:n.697-127_697-126delinsTT
NM_002075.3:c.700-127_700-126delinsTT (GNB3)	NP_002066.1:n.700-127_700-126delinsTT
XM_011520953.1:c.700-127_700-126delinsTT (GNB3)	XP_011519255.1:n.700-127_700-126delinsTT
XM_011520954.1:c.697-127_697-126delinsTT (GNB3)	XP_011519256.1:n.697-127_697-126delinsTT
XM_011521027.1:c.*2069_*2070delinsAA (CDCA3)	XP_011519329.1:n.*2069_*2070delinsAA
XM_011521028.1:c.*2069_*2070delinsAA (CDCA3)	XP_011519330.1:n.*2069_*2070delinsAA
XM_011521029.1:c.*2287_*2288delinsAA (CDCA3)	XP_011519331.1:n.*2287_*2288delinsAA
XM_011521030.1:c.*2220_*2221delinsAA (CDCA3)	XP_011519332.1:n.*2220_*2221delinsAA
XM_011520953.3:c.700-127_700-126delinsTT (GNB3)	XP_011519255.1:n.700-127_700-126delinsTT
XR_001748879.2:n.3614_3615delinsAA (CDCA3)
XR_001748880.2:n.2965_2966delinsAA (CDCA3)
XR_001748881.2:n.2874_2875delinsAA (CDCA3)
XR_002957383.1:n.3116_3117delinsAA (CDCA3)
XR_002957384.1:n.4027_4028delinsAA (CDCA3)
XR_002957385.1:n.3507_3508delinsAA (CDCA3)
NM_001297571.2:c.697-127_697-126delinsTT (GNB3)	NP_001284500.1:n.697-127_697-126delinsTT
NM_002075.4:c.700-127_700-126delinsTT (GNB3) MANE Select	NP_002066.1:n.700-127_700-126delinsTT
NM_001297603.3:c.*1328_*1329delinsAA (CDCA3)	NP_001284532.1:n.*1328_*1329delinsAA