Canonical Allele Identifier: CA2390797074
Gene: UBASH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42421139_42421140delinsTA , CM000683.2:g.42421139_42421140delinsTA GRCh38
NC_000021.8:g.43841248_43841249delinsTA , CM000683.1:g.43841248_43841249delinsTA GRCh37
NC_000021.7:g.42714317_42714318delinsTA NCBI36
NG_029750.1:g.22278_22279delinsTA
NG_029750.2:g.22278_22279delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000319294.11:c.1046+2530_1046+2531delinsTA MANE Select ENSP00000317327.6:n.1046+2530_1046+2531de...
ENST00000291535.11:c.932+2530_932+2531delinsTA ENSP00000291535.6:n.932+2530_932+2531deli...
ENST00000319294.10:c.1046+2530_1046+2531delinsTA ENSP00000317327.6:n.1046+2530_1046+2531de...
ENST00000398367.1:c.932+2530_932+2531delinsTA ENSP00000381408.1:n.932+2530_932+2531deli...
ENST00000473381.1:c.932+2530_932+2531delinsTA ENSP00000489235.1:n.932+2530_932+2531deli...
ENST00000635325.1:c.932+2530_932+2531delinsTA ENSP00000489463.1:n.932+2530_932+2531deli...
NM_001001895.2:c.932+2530_932+2531delinsTA NP_001001895.1:n.932+2530_932+2531delinsT...
NM_001243467.1:c.932+2530_932+2531delinsTA NP_001230396.1:n.932+2530_932+2531delinsT...
NM_018961.3:c.1046+2530_1046+2531delinsTA NP_061834.1:n.1046+2530_1046+2531delinsTA...
XM_006724013.2:c.989+2530_989+2531delinsTA XP_006724076.1:n.989+2530_989+2531delinsT...
XM_011529605.1:c.1046+2530_1046+2531delinsTA XP_011527907.1:n.1046+2530_1046+2531delin...
XM_011529606.1:c.641+2530_641+2531delinsTA XP_011527908.1:n.641+2530_641+2531delinsT...
XM_011529607.1:c.641+2530_641+2531delinsTA XP_011527909.1:n.641+2530_641+2531delinsT...
XM_011529608.1:c.1046+2530_1046+2531delinsTA XP_011527910.1:n.1046+2530_1046+2531delin...
XM_011529609.1:c.1046+2530_1046+2531delinsTA XP_011527911.1:n.1046+2530_1046+2531delin...
XM_011529610.1:c.230+2530_230+2531delinsTA XP_011527912.1:n.230+2530_230+2531delinsT...
XR_244316.1:n.1016+2530_1016+2531delinsTA
XR_937510.1:n.1016+2530_1016+2531delinsTA
XM_006724013.3:c.989+2530_989+2531delinsTA XP_006724076.1:n.989+2530_989+2531delinsT...
XM_011529605.3:c.1046+2530_1046+2531delinsTA XP_011527907.1:n.1046+2530_1046+2531delin...
XM_011529606.3:c.641+2530_641+2531delinsTA XP_011527908.1:n.641+2530_641+2531delinsT...
XM_011529607.2:c.641+2530_641+2531delinsTA XP_011527909.1:n.641+2530_641+2531delinsT...
XM_011529609.2:c.1046+2530_1046+2531delinsTA XP_011527911.1:n.1046+2530_1046+2531delin...
XM_011529610.2:c.230+2530_230+2531delinsTA XP_011527912.1:n.230+2530_230+2531delinsT...
XR_244316.2:n.998+2530_998+2531delinsTA
NM_018961.4:c.1046+2530_1046+2531delinsTA MANE Select NP_061834.1:n.1046+2530_1046+2531delinsTA...
NM_001001895.3:c.932+2530_932+2531delinsTA NP_001001895.1:n.932+2530_932+2531delinsT...
NM_001243467.2:c.932+2530_932+2531delinsTA NP_001230396.1:n.932+2530_932+2531delinsT...