Canonical Allele Identifier: CA680727465

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1387233850
• gnomAD v3: 11-8102069-T-TTTC
• gnomAD v4: 11-8102069-T-TTTC
• MyVariant Identifiers: chr11:g.8123616_8123617insTTC (hg19) ; chr11:g.8102069_8102070insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8102069_8102070insTTC , CM000673.2:g.8102069_8102070insTTC	GRCh38
NC_000011.9:g.8123616_8123617insTTC , CM000673.1:g.8123616_8123617insTTC	GRCh37
NC_000011.8:g.8080192_8080193insTTC	NCBI36
NG_029912.1:g.68437_68438insTTC
NG_030416.2:g.71974_71975insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*450_*451insTTC (TUB) MANE Select	ENSP00000299506.3:n.*450_*451insTTC
ENST00000305253.8:c.*450_*451insTTC (TUB)	ENSP00000305426.4:n.*450_*451insTTC
NM_003320.4:c.*450_*451insTTC (TUB)	NP_003311.2:n.*450_*451insTTC
NM_177972.2:c.*450_*451insTTC (TUB)	NP_813977.1:n.*450_*451insTTC
XM_005253109.2:c.*450_*451insTTC (TUB)	XP_005253166.1:n.*450_*451insTTC
XM_011520344.1:c.*450_*451insTTC (TUB)	XP_011518646.1:n.*450_*451insTTC
XR_428851.2:n.1484-7911_1484-7910insGAA (RIC3)
XR_930896.1:n.1546+5265_1546+5266insGAA (RIC3)
XR_930900.1:n.1547-4348_1547-4347insGAA (RIC3)
NR_144485.1:n.1519+5265_1519+5266insGAA (RIC3)
XM_005253109.3:c.*450_*451insTTC (TUB)	XP_005253166.1:n.*450_*451insTTC
XM_011520344.2:c.*450_*451insTTC (TUB)	XP_011518646.1:n.*450_*451insTTC
XR_001747957.2:n.1335-7911_1335-7910insGAA (RIC3)
XR_428851.4:n.1422-7911_1422-7910insGAA (RIC3)
XR_930896.3:n.1484+5265_1484+5266insGAA (RIC3)
XR_930900.3:n.1485-4348_1485-4347insGAA (RIC3)
NM_177972.3:c.*450_*451insTTC (TUB) MANE Select	NP_813977.1:n.*450_*451insTTC
NR_144485.2:n.1450+5265_1450+5266insGAA (RIC3)
NM_003320.5:c.*450_*451insTTC (TUB)	NP_003311.2:n.*450_*451insTTC