Canonical Allele Identifier: CA2612334254

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101838_8101841del , CM000673.2:g.8101838_8101841del GRCh38
NC_000011.9:g.8123385_8123388del , CM000673.1:g.8123385_8123388del GRCh37
NC_000011.8:g.8079961_8079964del NCBI36
NG_029912.1:g.68206_68209del
NG_030416.2:g.72203_72206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*219_*222del (TUB) MANE Select ENSP00000299506.3:n.*219_*222del
ENST00000299506.2:c.*219_*222del (TUB) ENSP00000299506.2:n.*219_*222del
ENST00000305253.8:c.*219_*222del (TUB) ENSP00000305426.4:n.*219_*222del
NM_003320.4:c.*219_*222del (TUB) NP_003311.2:n.*219_*222del
NM_177972.2:c.*219_*222del (TUB) NP_813977.1:n.*219_*222del
XM_005253109.2:c.*219_*222del (TUB) XP_005253166.1:n.*219_*222del
XM_011520344.1:c.*219_*222del (TUB) XP_011518646.1:n.*219_*222del
XR_428851.2:n.1484-7682_1484-7679del (RIC3)
XR_930896.1:n.1546+5494_1546+5497del (RIC3)
XR_930900.1:n.1547-4119_1547-4116del (RIC3)
NR_144485.1:n.1519+5494_1519+5497del (RIC3)
XM_005253109.3:c.*219_*222del (TUB) XP_005253166.1:n.*219_*222del
XM_011520344.2:c.*219_*222del (TUB) XP_011518646.1:n.*219_*222del
XR_001747957.2:n.1335-7682_1335-7679del (RIC3)
XR_428851.4:n.1422-7682_1422-7679del (RIC3)
XR_930896.3:n.1484+5494_1484+5497del (RIC3)
XR_930900.3:n.1485-4119_1485-4116del (RIC3)
NM_177972.3:c.*219_*222del (TUB) MANE Select NP_813977.1:n.*219_*222del
NR_144485.2:n.1450+5494_1450+5497del (RIC3)
NM_003320.5:c.*219_*222del (TUB) NP_003311.2:n.*219_*222del