Canonical Allele Identifier: CA2390797078
Gene: UBASH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42421150_42421151delinsAG , CM000683.2:g.42421150_42421151delinsAG GRCh38
NC_000021.8:g.43841259_43841260delinsAG , CM000683.1:g.43841259_43841260delinsAG GRCh37
NC_000021.7:g.42714328_42714329delinsAG NCBI36
NG_029750.1:g.22289_22290delinsAG
NG_029750.2:g.22289_22290delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000319294.11:c.1046+2541_1046+2542delinsAG MANE Select ENSP00000317327.6:n.1046+2541_1046+2542de...
ENST00000291535.11:c.932+2541_932+2542delinsAG ENSP00000291535.6:n.932+2541_932+2542deli...
ENST00000319294.10:c.1046+2541_1046+2542delinsAG ENSP00000317327.6:n.1046+2541_1046+2542de...
ENST00000398367.1:c.932+2541_932+2542delinsAG ENSP00000381408.1:n.932+2541_932+2542deli...
ENST00000473381.1:c.932+2541_932+2542delinsAG ENSP00000489235.1:n.932+2541_932+2542deli...
ENST00000635325.1:c.932+2541_932+2542delinsAG ENSP00000489463.1:n.932+2541_932+2542deli...
NM_001001895.2:c.932+2541_932+2542delinsAG NP_001001895.1:n.932+2541_932+2542delinsA...
NM_001243467.1:c.932+2541_932+2542delinsAG NP_001230396.1:n.932+2541_932+2542delinsA...
NM_018961.3:c.1046+2541_1046+2542delinsAG NP_061834.1:n.1046+2541_1046+2542delinsAG...
XM_006724013.2:c.989+2541_989+2542delinsAG XP_006724076.1:n.989+2541_989+2542delinsA...
XM_011529605.1:c.1046+2541_1046+2542delinsAG XP_011527907.1:n.1046+2541_1046+2542delin...
XM_011529606.1:c.641+2541_641+2542delinsAG XP_011527908.1:n.641+2541_641+2542delinsA...
XM_011529607.1:c.641+2541_641+2542delinsAG XP_011527909.1:n.641+2541_641+2542delinsA...
XM_011529608.1:c.1046+2541_1046+2542delinsAG XP_011527910.1:n.1046+2541_1046+2542delin...
XM_011529609.1:c.1046+2541_1046+2542delinsAG XP_011527911.1:n.1046+2541_1046+2542delin...
XM_011529610.1:c.230+2541_230+2542delinsAG XP_011527912.1:n.230+2541_230+2542delinsA...
XR_244316.1:n.1016+2541_1016+2542delinsAG
XR_937510.1:n.1016+2541_1016+2542delinsAG
XM_006724013.3:c.989+2541_989+2542delinsAG XP_006724076.1:n.989+2541_989+2542delinsA...
XM_011529605.3:c.1046+2541_1046+2542delinsAG XP_011527907.1:n.1046+2541_1046+2542delin...
XM_011529606.3:c.641+2541_641+2542delinsAG XP_011527908.1:n.641+2541_641+2542delinsA...
XM_011529607.2:c.641+2541_641+2542delinsAG XP_011527909.1:n.641+2541_641+2542delinsA...
XM_011529609.2:c.1046+2541_1046+2542delinsAG XP_011527911.1:n.1046+2541_1046+2542delin...
XM_011529610.2:c.230+2541_230+2542delinsAG XP_011527912.1:n.230+2541_230+2542delinsA...
XR_244316.2:n.998+2541_998+2542delinsAG
NM_018961.4:c.1046+2541_1046+2542delinsAG MANE Select NP_061834.1:n.1046+2541_1046+2542delinsAG...
NM_001001895.3:c.932+2541_932+2542delinsAG NP_001001895.1:n.932+2541_932+2542delinsA...
NM_001243467.2:c.932+2541_932+2542delinsAG NP_001230396.1:n.932+2541_932+2542delinsA...