Canonical Allele Identifier: CA597327064

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1308142504
• gnomAD v2: 11-8123185-T-TGGGGTTGCCCAGCCTGGAGCG
• gnomAD v3: 11-8101638-T-TGGGGTTGCCCAGCCTGGAGCG
• gnomAD v4: 11-8101638-T-TGGGGTTGCCCAGCCTGGAGCG
• MyVariant Identifiers: chr11:g.8123185_8123186insGGGGTTGCCCAGCCTGGAGCG (hg19) ; chr11:g.8101638_8101639insGGGGTTGCCCAGCCTGGAGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101640_8101660dup , CM000673.2:g.8101640_8101660dup	GRCh38
NC_000011.9:g.8123187_8123207dup , CM000673.1:g.8123187_8123207dup	GRCh37
NC_000011.8:g.8079763_8079783dup	NCBI36
NG_029912.1:g.68008_68028dup
NG_030416.2:g.72385_72405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*21_*41dup (TUB) MANE Select	ENSP00000299506.3:n.*21_*41dup
ENST00000299506.2:c.*21_*41dup (TUB)	ENSP00000299506.2:n.*21_*41dup
ENST00000305253.8:c.*21_*41dup (TUB)	ENSP00000305426.4:n.*21_*41dup
ENST00000534099.5:c.*21_*41dup (TUB)	ENSP00000434400.1:n.*21_*41dup
NM_003320.4:c.*21_*41dup (TUB)	NP_003311.2:n.*21_*41dup
NM_177972.2:c.*21_*41dup (TUB)	NP_813977.1:n.*21_*41dup
XM_005253109.2:c.*21_*41dup (TUB)	XP_005253166.1:n.*21_*41dup
XM_011520344.1:c.*21_*41dup (TUB)	XP_011518646.1:n.*21_*41dup
XR_428851.2:n.1484-7500_1484-7480dup (RIC3)
XR_930896.1:n.1546+5676_1546+5696dup (RIC3)
XR_930900.1:n.1547-3937_1547-3917dup (RIC3)
NR_144485.1:n.1519+5676_1519+5696dup (RIC3)
XM_005253109.3:c.*21_*41dup (TUB)	XP_005253166.1:n.*21_*41dup
XM_011520344.2:c.*21_*41dup (TUB)	XP_011518646.1:n.*21_*41dup
XR_001747957.2:n.1335-7500_1335-7480dup (RIC3)
XR_428851.4:n.1422-7500_1422-7480dup (RIC3)
XR_930896.3:n.1484+5676_1484+5696dup (RIC3)
XR_930900.3:n.1485-3937_1485-3917dup (RIC3)
NM_177972.3:c.*21_*41dup (TUB) MANE Select	NP_813977.1:n.*21_*41dup
NR_144485.2:n.1450+5676_1450+5696dup (RIC3)
NM_003320.5:c.*21_*41dup (TUB)	NP_003311.2:n.*21_*41dup