Canonical Allele Identifier: CA2612333895

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101596-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101597del , CM000673.2:g.8101597del	GRCh38
NC_000011.9:g.8123144del , CM000673.1:g.8123144del	GRCh37
NC_000011.8:g.8079720del	NCBI36
NG_029912.1:g.67965del
NG_030416.2:g.72447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1499del (TUB) MANE Select	ENSP00000299506.3:p.Asp500AlafsTer?
ENST00000299506.2:c.1499del (TUB)	ENSP00000299506.2:p.Asp500AlafsTer?
ENST00000305253.8:c.1664del (TUB)	ENSP00000305426.4:p.Asp555AlafsTer?
ENST00000534099.5:c.1517del (TUB)	ENSP00000434400.1:p.Asp506AlafsTer?
NM_003320.4:c.1664del (TUB)	NP_003311.2:p.Asp555AlafsTer?
NM_177972.2:c.1499del (TUB)	NP_813977.1:p.Asp500AlafsTer?
XM_005253109.2:c.1625del (TUB)	XP_005253166.1:p.Asp542AlafsTer?
XM_011520344.1:c.1535del (TUB)	XP_011518646.1:p.Asp512AlafsTer?
XR_428851.2:n.1484-7438del (RIC3)
XR_930896.1:n.1546+5738del (RIC3)
XR_930900.1:n.1547-3875del (RIC3)
NR_144485.1:n.1519+5738del (RIC3)
XM_005253109.3:c.1625del (TUB)	XP_005253166.1:p.Asp542AlafsTer?
XM_011520344.2:c.1535del (TUB)	XP_011518646.1:p.Asp512AlafsTer?
XR_001747957.2:n.1335-7438del (RIC3)
XR_428851.4:n.1422-7438del (RIC3)
XR_930896.3:n.1484+5738del (RIC3)
XR_930900.3:n.1485-3875del (RIC3)
NM_177972.3:c.1499del (TUB) MANE Select	NP_813977.1:p.Asp500AlafsTer?
NR_144485.2:n.1450+5738del (RIC3)
NM_003320.5:c.1664del (TUB)	NP_003311.2:p.Asp555AlafsTer?