Canonical Allele Identifier: CA5871559

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs781434649
• ExAC: 11:8123211 T / TTGCC
• gnomAD v2: 11-8123211-T-TTGCC
• gnomAD v3: 11-8101664-T-TTGCC
• gnomAD v4: 11-8101664-T-TTGCC
• MyVariant Identifiers: chr11:g.8123211_8123212insTGCC (hg19) ; chr11:g.8101664_8101665insTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101675_8101678dup , CM000673.2:g.8101675_8101678dup	GRCh38
NC_000011.9:g.8123222_8123225dup , CM000673.1:g.8123222_8123225dup	GRCh37
NC_000011.8:g.8079798_8079801dup	NCBI36
NG_029912.1:g.68043_68046dup
NG_030416.2:g.72376_72379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*56_*59dup (TUB) MANE Select	ENSP00000299506.3:n.*56_*59dup
ENST00000299506.2:c.*56_*59dup (TUB)	ENSP00000299506.2:n.*56_*59dup
ENST00000305253.8:c.*56_*59dup (TUB)	ENSP00000305426.4:n.*56_*59dup
ENST00000534099.5:c.*56_*59dup (TUB)	ENSP00000434400.1:n.*56_*59dup
NM_003320.4:c.*56_*59dup (TUB)	NP_003311.2:n.*56_*59dup
NM_177972.2:c.*56_*59dup (TUB)	NP_813977.1:n.*56_*59dup
XM_005253109.2:c.*56_*59dup (TUB)	XP_005253166.1:n.*56_*59dup
XM_011520344.1:c.*56_*59dup (TUB)	XP_011518646.1:n.*56_*59dup
XR_428851.2:n.1484-7509_1484-7506dup (RIC3)
XR_930896.1:n.1546+5667_1546+5670dup (RIC3)
XR_930900.1:n.1547-3946_1547-3943dup (RIC3)
NR_144485.1:n.1519+5667_1519+5670dup (RIC3)
XM_005253109.3:c.*56_*59dup (TUB)	XP_005253166.1:n.*56_*59dup
XM_011520344.2:c.*56_*59dup (TUB)	XP_011518646.1:n.*56_*59dup
XR_001747957.2:n.1335-7509_1335-7506dup (RIC3)
XR_428851.4:n.1422-7509_1422-7506dup (RIC3)
XR_930896.3:n.1484+5667_1484+5670dup (RIC3)
XR_930900.3:n.1485-3946_1485-3943dup (RIC3)
NM_177972.3:c.*56_*59dup (TUB) MANE Select	NP_813977.1:n.*56_*59dup
NR_144485.2:n.1450+5667_1450+5670dup (RIC3)
NM_003320.5:c.*56_*59dup (TUB)	NP_003311.2:n.*56_*59dup