Canonical Allele Identifier: CA2617351673

Gene: GNB3 CDCA3

Linked Data

• gnomAD v4: 12-6845479-TGAGAGCAGCGGCTTGCCCTGGAGCTGTCAGGTGGGAGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6845483_6845522del , CM000674.2:g.6845483_6845522del	GRCh38
NC_000012.11:g.6954647_6954686del , CM000674.1:g.6954647_6954686del	GRCh37
NC_000012.10:g.6824908_6824947del	NCBI36
NG_009100.1:g.10273_10312del
NG_009100.2:g.10273_10312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.700-103_700-64del (GNB3) MANE Select	ENSP00000229264.3:n.700-103_700-64del
ENST00000229264.7:c.700-103_700-64del (GNB3)	ENSP00000229264.3:n.700-103_700-64del
ENST00000422785.7:c.*1269_*1308del (CDCA3)	ENSP00000415142.2:n.*1269_*1308del
ENST00000435982.6:c.697-103_697-64del (GNB3)	ENSP00000414734.2:n.697-103_697-64del
ENST00000537035.1:c.577-103_577-64del (GNB3)	ENSP00000445967.1:n.577-103_577-64del
ENST00000540458.5:n.2051-103_2051-64del (GNB3)
ENST00000542751.1:n.117_156del (GNB3)
ENST00000603043.1:n.1335_1374del (CDCA3)
ENST00000604599.1:n.2197_2236del (CDCA3)
NM_001297571.1:c.697-103_697-64del (GNB3)	NP_001284500.1:n.697-103_697-64del
NM_002075.3:c.700-103_700-64del (GNB3)	NP_002066.1:n.700-103_700-64del
XM_011520953.1:c.700-103_700-64del (GNB3)	XP_011519255.1:n.700-103_700-64del
XM_011520954.1:c.697-103_697-64del (GNB3)	XP_011519256.1:n.697-103_697-64del
XM_011521027.1:c.*2010_*2049del (CDCA3)	XP_011519329.1:n.*2010_*2049del
XM_011521028.1:c.*2010_*2049del (CDCA3)	XP_011519330.1:n.*2010_*2049del
XM_011521029.1:c.*2228_*2267del (CDCA3)	XP_011519331.1:n.*2228_*2267del
XM_011521030.1:c.*2161_*2200del (CDCA3)	XP_011519332.1:n.*2161_*2200del
XM_011520953.3:c.700-103_700-64del (GNB3)	XP_011519255.1:n.700-103_700-64del
XR_001748879.2:n.3555_3594del (CDCA3)
XR_001748880.2:n.2906_2945del (CDCA3)
XR_001748881.2:n.2815_2854del (CDCA3)
XR_002957383.1:n.3057_3096del (CDCA3)
XR_002957384.1:n.3968_4007del (CDCA3)
XR_002957385.1:n.3448_3487del (CDCA3)
NM_001297571.2:c.697-103_697-64del (GNB3)	NP_001284500.1:n.697-103_697-64del
NM_002075.4:c.700-103_700-64del (GNB3) MANE Select	NP_002066.1:n.700-103_700-64del
NM_001297603.3:c.*1269_*1308del (CDCA3)	NP_001284532.1:n.*1269_*1308del