Canonical Allele Identifier: CA217430979

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs766505202
• gnomAD v3: 11-8101894-A-AGT
• gnomAD v4: 11-8101894-A-AGT
• MyVariant Identifiers: chr11:g.8123441_8123442insGT (hg19) ; chr11:g.8101894_8101895insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101899_8101900dup , CM000673.2:g.8101899_8101900dup	GRCh38
NC_000011.9:g.8123446_8123447dup , CM000673.1:g.8123446_8123447dup	GRCh37
NC_000011.8:g.8080022_8080023dup	NCBI36
NG_029912.1:g.68267_68268dup
NG_030416.2:g.72148_72149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*280_*281dup (TUB) MANE Select	ENSP00000299506.3:n.*280_*281dup
ENST00000299506.2:c.*280_*281dup (TUB)	ENSP00000299506.2:n.*280_*281dup
ENST00000305253.8:c.*280_*281dup (TUB)	ENSP00000305426.4:n.*280_*281dup
NM_003320.4:c.*280_*281dup (TUB)	NP_003311.2:n.*280_*281dup
NM_177972.2:c.*280_*281dup (TUB)	NP_813977.1:n.*280_*281dup
XM_005253109.2:c.*280_*281dup (TUB)	XP_005253166.1:n.*280_*281dup
XM_011520344.1:c.*280_*281dup (TUB)	XP_011518646.1:n.*280_*281dup
XR_428851.2:n.1484-7737_1484-7736dup (RIC3)
XR_930896.1:n.1546+5439_1546+5440dup (RIC3)
XR_930900.1:n.1547-4174_1547-4173dup (RIC3)
NR_144485.1:n.1519+5439_1519+5440dup (RIC3)
XM_005253109.3:c.*280_*281dup (TUB)	XP_005253166.1:n.*280_*281dup
XM_011520344.2:c.*280_*281dup (TUB)	XP_011518646.1:n.*280_*281dup
XR_001747957.2:n.1335-7737_1335-7736dup (RIC3)
XR_428851.4:n.1422-7737_1422-7736dup (RIC3)
XR_930896.3:n.1484+5439_1484+5440dup (RIC3)
XR_930900.3:n.1485-4174_1485-4173dup (RIC3)
NM_177972.3:c.*280_*281dup (TUB) MANE Select	NP_813977.1:n.*280_*281dup
NR_144485.2:n.1450+5439_1450+5440dup (RIC3)
NM_003320.5:c.*280_*281dup (TUB)	NP_003311.2:n.*280_*281dup