Canonical Allele Identifier: CA2547952397
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10878078_10878090del , CM000678.2:g.10878078_10878090del GRCh38
NC_000016.9:g.10971935_10971947del , CM000678.1:g.10971935_10971947del GRCh37
NC_000016.8:g.10879436_10879448del NCBI36
NG_009628.1:g.5881_5893del , LRG_49:g.5881_5893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695878.1:n.157+696_157+708del
ENST00000324288.14:c.52+696_52+708del MANE Select ENSP00000316328.8:n.52+696_52+708del
ENST00000636238.1:c.-21+11759_-21+11771del ENSP00000490205.1:n.-21+11759_-21+11771del
ENST00000637439.1:c.283+11506_283+11518del ENSP00000489907.1:n.283+11506_283+11518del
ENST00000324288.12:c.52+696_52+708del ENSP00000316328.8:n.52+696_52+708del
ENST00000381835.9:c.52+696_52+708del ENSP00000371257.5:n.52+696_52+708del
ENST00000537380.1:n.52+696_52+708del
ENST00000570546.5:n.173+696_173+708del
ENST00000571186.5:c.52+696_52+708del ENSP00000459829.1:n.52+696_52+708del
ENST00000573309.5:n.167+696_167+708del
ENST00000611587.4:c.52+696_52+708del ENSP00000483487.1:n.52+696_52+708del
ENST00000618207.4:c.52+696_52+708del ENSP00000484761.1:n.52+696_52+708del
ENST00000618327.4:c.52+696_52+708del ENSP00000485010.1:n.52+696_52+708del
NM_000246.3:c.52+696_52+708del , LRG_49t1:c.52+696_52+708del NP_000237.2:n.52+696_52+708del
NM_001286402.1:c.52+696_52+708del NP_001273331.1:n.52+696_52+708del
NM_001286403.1:c.52+696_52+708del NP_001273332.1:n.52+696_52+708del
NR_104444.1:n.185+696_185+708del
XM_006720880.2:c.346+11506_346+11518del XP_006720943.2:n.346+11506_346+11518del
XM_011522484.1:c.346+11506_346+11518del XP_011520786.1:n.346+11506_346+11518del
XM_011522485.1:c.346+11506_346+11518del XP_011520787.1:n.346+11506_346+11518del
XM_011522486.1:c.346+11506_346+11518del XP_011520788.1:n.346+11506_346+11518del
XM_011522487.1:c.247+11506_247+11518del XP_011520789.1:n.247+11506_247+11518del
XM_011522489.1:c.247+11506_247+11518del XP_011520791.1:n.247+11506_247+11518del
XM_011522491.1:c.346+11506_346+11518del XP_011520793.1:n.346+11506_346+11518del
XM_011522492.1:c.52+696_52+708del XP_011520794.1:n.52+696_52+708del
XM_011522493.1:c.52+696_52+708del XP_011520795.1:n.52+696_52+708del
XM_011522494.1:c.-21+11759_-21+11771del XP_011520796.1:n.-21+11759_-21+11771del
XM_011522495.1:c.52+696_52+708del XP_011520797.1:n.52+696_52+708del
XM_011522496.1:c.52+696_52+708del XP_011520798.1:n.52+696_52+708del
XR_932841.1:n.361+11506_361+11518del
XR_932842.1:n.361+11506_361+11518del
XR_932843.1:n.361+11506_361+11518del
XR_932846.1:n.361+11506_361+11518del
XR_932847.1:n.361+11506_361+11518del
XR_932848.1:n.202+696_202+708del
XR_933067.1:n.1162+10227_1162+10239del
XR_933068.1:n.1162+10227_1162+10239del
XM_006720880.3:c.346+11506_346+11518del XP_006720943.2:n.346+11506_346+11518del
XM_011522484.3:c.346+11506_346+11518del XP_011520786.1:n.346+11506_346+11518del
XM_011522485.2:c.346+11506_346+11518del XP_011520787.1:n.346+11506_346+11518del
XM_011522486.2:c.346+11506_346+11518del XP_011520788.1:n.346+11506_346+11518del
XM_011522487.2:c.247+11506_247+11518del XP_011520789.1:n.247+11506_247+11518del
XM_011522488.2:c.-868_-856del XP_011520790.1:n.-868_-856del
XM_011522489.2:c.247+11506_247+11518del XP_011520791.1:n.247+11506_247+11518del
XM_011522490.2:c.-868_-856del XP_011520792.1:n.-868_-856del
XM_011522491.2:c.346+11506_346+11518del XP_011520793.1:n.346+11506_346+11518del
XM_011522492.2:c.52+696_52+708del XP_011520794.1:n.52+696_52+708del
XM_011522493.2:c.52+696_52+708del XP_011520795.1:n.52+696_52+708del
XM_011522494.2:c.-21+11759_-21+11771del XP_011520796.1:n.-21+11759_-21+11771del
XM_011522495.2:c.52+696_52+708del XP_011520797.1:n.52+696_52+708del
XM_011522496.2:c.52+696_52+708del XP_011520798.1:n.52+696_52+708del
XM_024450280.1:c.52+696_52+708del XP_024306048.1:n.52+696_52+708del
XM_024450281.1:c.52+696_52+708del XP_024306049.1:n.52+696_52+708del
XR_001751904.1:n.365+11506_365+11518del
XR_002957860.1:n.1246+10227_1246+10239del
XR_002957861.1:n.1246+10227_1246+10239del
XR_002957863.1:n.1442+4931_1442+4943del
XR_932841.3:n.363+11506_363+11518del
XR_932842.2:n.363+11506_363+11518del
XR_932846.3:n.365+11506_365+11518del
XR_932847.3:n.365+11506_365+11518del
NM_001286403.2:c.52+696_52+708del NP_001273332.1:n.52+696_52+708del
NR_104444.2:n.181+696_181+708del
NM_000246.4:c.52+696_52+708del MANE Select NP_000237.2:n.52+696_52+708del
NM_001379330.1:c.52+696_52+708del NP_001366259.1:n.52+696_52+708del
NM_001379331.1:c.52+696_52+708del NP_001366260.1:n.52+696_52+708del
NM_001379332.1:c.52+696_52+708del NP_001366261.1:n.52+696_52+708del
NM_001379333.1:c.52+696_52+708del NP_001366262.1:n.52+696_52+708del