Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101935_8101936insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC , CM000673.2:g.8101935_8101936insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC	GRCh38
NC_000011.9:g.8123482_8123483insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC , CM000673.1:g.8123482_8123483insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC	GRCh37
NC_000011.8:g.8080058_8080059insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC	NCBI36
NG_029912.1:g.68303_68304insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC
NG_030416.2:g.72108_72109insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB) MANE Select	ENSP00000299506.3:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
ENST00000299506.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	ENSP00000299506.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
ENST00000305253.8:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	ENSP00000305426.4:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
NM_003320.4:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_003311.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
NM_177972.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_813977.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
XM_005253109.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_005253166.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XM_011520344.1:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_011518646.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XR_428851.2:n.1484-7777_1484-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930896.1:n.1546+5399_1546+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930900.1:n.1547-4214_1547-4213insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NR_144485.1:n.1519+5399_1519+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XM_005253109.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_005253166.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XM_011520344.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_011518646.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XR_001747957.2:n.1335-7777_1335-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_428851.4:n.1422-7777_1422-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930896.3:n.1484+5399_1484+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930900.3:n.1485-4214_1485-4213insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NM_177972.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB) MANE Select	NP_813977.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
NR_144485.2:n.1450+5399_1450+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NM_003320.5:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_003311.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...

HGVS	Amino-acid Change
ENST00000299506.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB) MANE Select	ENSP00000299506.3:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
ENST00000299506.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	ENSP00000299506.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
ENST00000305253.8:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	ENSP00000305426.4:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTG...
NM_003320.4:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_003311.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
NM_177972.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_813977.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
XM_005253109.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_005253166.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XM_011520344.1:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_011518646.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XR_428851.2:n.1484-7777_1484-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930896.1:n.1546+5399_1546+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930900.1:n.1547-4214_1547-4213insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NR_144485.1:n.1519+5399_1519+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XM_005253109.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_005253166.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XM_011520344.2:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	XP_011518646.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCT...
XR_001747957.2:n.1335-7777_1335-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_428851.4:n.1422-7777_1422-7776insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930896.3:n.1484+5399_1484+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
XR_930900.3:n.1485-4214_1485-4213insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NM_177972.3:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB) MANE Select	NP_813977.1:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...
NR_144485.2:n.1450+5399_1450+5400insGGGTAGTTGTAATCCATGGTGAACACATCCTCTGCTACCCGGCCAAACTGCATCACGATGTAGTCCGCTGGGGCCAAGCACAGGCACAGACAGAGAAAAGGACAGGACAGGAA (RIC3)
NM_003320.5:c.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTGCTTGGCCCCAGCGGACTACATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCC (TUB)	NP_003311.2:n.316_317insTTCCTGTCCTGTCCTTTTCTCTGTCTGTGCCTGTG...