Canonical Allele Identifier: CA2617343996

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6847118_6847129del , CM000674.2:g.6847118_6847129del GRCh38
NC_000012.11:g.6956282_6956293del , CM000674.1:g.6956282_6956293del GRCh37
NC_000012.10:g.6826543_6826554del NCBI36
NG_009100.1:g.11908_11919del
NG_009100.2:g.11908_11919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.*220_*231del (GNB3) MANE Select ENSP00000229264.3:n.*220_*231del
ENST00000229264.7:c.*220_*231del (GNB3) ENSP00000229264.3:n.*220_*231del
ENST00000422785.7:c.545-225_545-214del (CDCA3) ENSP00000415142.2:n.545-225_545-214del
ENST00000540458.5:n.2594_2605del (GNB3)
ENST00000542751.1:n.763_774del (GNB3)
ENST00000603043.1:n.308-225_308-214del (CDCA3)
ENST00000604599.1:n.813-225_813-214del (CDCA3)
NM_001297571.1:c.*220_*231del (GNB3) NP_001284500.1:n.*220_*231del
NM_001297603.1:c.545-225_545-214del (CDCA3) NP_001284532.1:n.545-225_545-214del
NM_002075.3:c.*220_*231del (GNB3) NP_002066.1:n.*220_*231del
XM_011521027.1:c.*983-225_*983-214del (CDCA3) XP_011519329.1:n.*983-225_*983-214del
XM_011521028.1:c.*983-225_*983-214del (CDCA3) XP_011519330.1:n.*983-225_*983-214del
XM_011521029.1:c.*1201-225_*1201-214del (CDCA3) XP_011519331.1:n.*1201-225_*1201-214del
XM_011521030.1:c.*1134-225_*1134-214del (CDCA3) XP_011519332.1:n.*1134-225_*1134-214del
NM_001297603.2:c.545-225_545-214del (CDCA3) NP_001284532.1:n.545-225_545-214del
XR_001748879.2:n.2528-225_2528-214del (CDCA3)
XR_001748880.2:n.1879-225_1879-214del (CDCA3)
XR_001748881.2:n.1788-225_1788-214del (CDCA3)
XR_002957383.1:n.2030-225_2030-214del (CDCA3)
XR_002957384.1:n.2941-225_2941-214del (CDCA3)
XR_002957385.1:n.2421-225_2421-214del (CDCA3)
NM_001297571.2:c.*220_*231del (GNB3) NP_001284500.1:n.*220_*231del
NM_002075.4:c.*220_*231del (GNB3) MANE Select NP_002066.1:n.*220_*231del
NM_001297603.3:c.545-225_545-214del (CDCA3) NP_001284532.1:n.545-225_545-214del