Canonical Allele Identifier: CA2207313448
Gene: CIITA HGNC NCBI

Linked Data

dbSNP Id: rs2036008089

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10878011_10878013del , CM000678.2:g.10878011_10878013del GRCh38
NC_000016.9:g.10971868_10971870del , CM000678.1:g.10971868_10971870del GRCh37
NC_000016.8:g.10879369_10879371del NCBI36
NG_009628.1:g.5814_5816del , LRG_49:g.5814_5816del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695878.1:n.157+629_157+631del
ENST00000324288.14:c.52+629_52+631del MANE Select ENSP00000316328.8:n.52+629_52+631del
ENST00000636238.1:c.-21+11692_-21+11694del ENSP00000490205.1:n.-21+11692_-21+11694del
ENST00000637439.1:c.283+11439_283+11441del ENSP00000489907.1:n.283+11439_283+11441del
ENST00000324288.12:c.52+629_52+631del ENSP00000316328.8:n.52+629_52+631del
ENST00000381835.9:c.52+629_52+631del ENSP00000371257.5:n.52+629_52+631del
ENST00000537380.1:n.52+629_52+631del
ENST00000570546.5:n.173+629_173+631del
ENST00000571186.5:c.52+629_52+631del ENSP00000459829.1:n.52+629_52+631del
ENST00000573309.5:n.167+629_167+631del
ENST00000611587.4:c.52+629_52+631del ENSP00000483487.1:n.52+629_52+631del
ENST00000618207.4:c.52+629_52+631del ENSP00000484761.1:n.52+629_52+631del
ENST00000618327.4:c.52+629_52+631del ENSP00000485010.1:n.52+629_52+631del
NM_000246.3:c.52+629_52+631del , LRG_49t1:c.52+629_52+631del NP_000237.2:n.52+629_52+631del
NM_001286402.1:c.52+629_52+631del NP_001273331.1:n.52+629_52+631del
NM_001286403.1:c.52+629_52+631del NP_001273332.1:n.52+629_52+631del
NR_104444.1:n.185+629_185+631del
XM_006720880.2:c.346+11439_346+11441del XP_006720943.2:n.346+11439_346+11441del
XM_011522484.1:c.346+11439_346+11441del XP_011520786.1:n.346+11439_346+11441del
XM_011522485.1:c.346+11439_346+11441del XP_011520787.1:n.346+11439_346+11441del
XM_011522486.1:c.346+11439_346+11441del XP_011520788.1:n.346+11439_346+11441del
XM_011522487.1:c.247+11439_247+11441del XP_011520789.1:n.247+11439_247+11441del
XM_011522489.1:c.247+11439_247+11441del XP_011520791.1:n.247+11439_247+11441del
XM_011522491.1:c.346+11439_346+11441del XP_011520793.1:n.346+11439_346+11441del
XM_011522492.1:c.52+629_52+631del XP_011520794.1:n.52+629_52+631del
XM_011522493.1:c.52+629_52+631del XP_011520795.1:n.52+629_52+631del
XM_011522494.1:c.-21+11692_-21+11694del XP_011520796.1:n.-21+11692_-21+11694del
XM_011522495.1:c.52+629_52+631del XP_011520797.1:n.52+629_52+631del
XM_011522496.1:c.52+629_52+631del XP_011520798.1:n.52+629_52+631del
XR_932841.1:n.361+11439_361+11441del
XR_932842.1:n.361+11439_361+11441del
XR_932843.1:n.361+11439_361+11441del
XR_932846.1:n.361+11439_361+11441del
XR_932847.1:n.361+11439_361+11441del
XR_932848.1:n.202+629_202+631del
XR_933067.1:n.1162+10304_1162+10306del
XR_933068.1:n.1162+10304_1162+10306del
XM_006720880.3:c.346+11439_346+11441del XP_006720943.2:n.346+11439_346+11441del
XM_011522484.3:c.346+11439_346+11441del XP_011520786.1:n.346+11439_346+11441del
XM_011522485.2:c.346+11439_346+11441del XP_011520787.1:n.346+11439_346+11441del
XM_011522486.2:c.346+11439_346+11441del XP_011520788.1:n.346+11439_346+11441del
XM_011522487.2:c.247+11439_247+11441del XP_011520789.1:n.247+11439_247+11441del
XM_011522488.2:c.-935_-933del XP_011520790.1:n.-935_-933del
XM_011522489.2:c.247+11439_247+11441del XP_011520791.1:n.247+11439_247+11441del
XM_011522490.2:c.-935_-933del XP_011520792.1:n.-935_-933del
XM_011522491.2:c.346+11439_346+11441del XP_011520793.1:n.346+11439_346+11441del
XM_011522492.2:c.52+629_52+631del XP_011520794.1:n.52+629_52+631del
XM_011522493.2:c.52+629_52+631del XP_011520795.1:n.52+629_52+631del
XM_011522494.2:c.-21+11692_-21+11694del XP_011520796.1:n.-21+11692_-21+11694del
XM_011522495.2:c.52+629_52+631del XP_011520797.1:n.52+629_52+631del
XM_011522496.2:c.52+629_52+631del XP_011520798.1:n.52+629_52+631del
XM_024450280.1:c.52+629_52+631del XP_024306048.1:n.52+629_52+631del
XM_024450281.1:c.52+629_52+631del XP_024306049.1:n.52+629_52+631del
XR_001751904.1:n.365+11439_365+11441del
XR_002957860.1:n.1246+10304_1246+10306del
XR_002957861.1:n.1246+10304_1246+10306del
XR_002957863.1:n.1442+5008_1442+5010del
XR_932841.3:n.363+11439_363+11441del
XR_932842.2:n.363+11439_363+11441del
XR_932846.3:n.365+11439_365+11441del
XR_932847.3:n.365+11439_365+11441del
NM_001286403.2:c.52+629_52+631del NP_001273332.1:n.52+629_52+631del
NR_104444.2:n.181+629_181+631del
NM_000246.4:c.52+629_52+631del MANE Select NP_000237.2:n.52+629_52+631del
NM_001379330.1:c.52+629_52+631del NP_001366259.1:n.52+629_52+631del
NM_001379331.1:c.52+629_52+631del NP_001366260.1:n.52+629_52+631del
NM_001379332.1:c.52+629_52+631del NP_001366261.1:n.52+629_52+631del
NM_001379333.1:c.52+629_52+631del NP_001366262.1:n.52+629_52+631del