Canonical Allele Identifier: CA645583476

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902042-GC-G
• COSMIC: COSM2141909

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902048del , CM000678.2:g.10902048del	GRCh38
NC_000016.9:g.10995905del , CM000678.1:g.10995905del	GRCh37
NC_000016.8:g.10903406del	NCBI36
NG_009628.1:g.29851del , LRG_49:g.29851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.517del
ENST00000324288.14:c.492del MANE Select	ENSP00000316328.8:p.Thr165LeufsTer3
ENST00000637439.1:c.726del	ENSP00000489907.1:p.Thr243LeufsTer3
ENST00000324288.12:c.492del	ENSP00000316328.8:p.Thr165LeufsTer3
ENST00000381835.9:c.481+490del	ENSP00000371257.5:n.481+490del
ENST00000537380.1:n.492del
ENST00000570546.5:n.613del
ENST00000571186.5:c.*213del	ENSP00000459829.1:n.*213del
ENST00000573309.5:n.599+490del
ENST00000576601.1:c.420del	ENSP00000459608.1:p.Thr141LeufsTer3
ENST00000611587.4:c.484+490del	ENSP00000483487.1:n.484+490del
ENST00000618207.4:c.492del	ENSP00000484761.1:p.Thr165LeufsTer3
ENST00000618327.4:c.495del	ENSP00000485010.1:p.Thr166LeufsTer3
NM_000246.3:c.492del , LRG_49t1:c.492del	NP_000237.2:p.Thr165LeufsTer3
NM_001286402.1:c.495del	NP_001273331.1:p.Thr166LeufsTer3
NM_001286403.1:c.481+490del	NP_001273332.1:n.481+490del
NR_104444.1:n.625del
XM_006720880.2:c.789del	XP_006720943.2:p.Thr264LeufsTer3
XM_011522484.1:c.789del	XP_011520786.1:p.Thr264LeufsTer3
XM_011522485.1:c.789del	XP_011520787.1:p.Thr264LeufsTer3
XM_011522486.1:c.789del	XP_011520788.1:p.Thr264LeufsTer3
XM_011522487.1:c.679+490del	XP_011520789.1:n.679+490del
XM_011522488.1:c.540del	XP_011520790.1:p.Thr181LeufsTer3
XM_011522489.1:c.676+490del	XP_011520791.1:n.676+490del
XM_011522490.1:c.537del	XP_011520792.1:p.Thr180LeufsTer3
XM_011522491.1:c.789del	XP_011520793.1:p.Thr264LeufsTer3
XM_011522492.1:c.495del	XP_011520794.1:p.Thr166LeufsTer3
XM_011522493.1:c.492del	XP_011520795.1:p.Thr165LeufsTer3
XM_011522494.1:c.423del	XP_011520796.1:p.Thr142LeufsTer3
XM_011522495.1:c.484+490del	XP_011520797.1:n.484+490del
XM_011522496.1:c.481+490del	XP_011520798.1:n.481+490del
XR_932841.1:n.804del
XR_932842.1:n.804del
XR_932843.1:n.804del
XR_932846.1:n.804del
XR_932847.1:n.804del
XR_932848.1:n.631+490del
XM_006720880.3:c.789del	XP_006720943.2:p.Thr264LeufsTer3
XM_011522484.3:c.789del	XP_011520786.1:p.Thr264LeufsTer3
XM_011522485.2:c.789del	XP_011520787.1:p.Thr264LeufsTer3
XM_011522486.2:c.789del	XP_011520788.1:p.Thr264LeufsTer3
XM_011522487.2:c.679+490del	XP_011520789.1:n.679+490del
XM_011522488.2:c.540del	XP_011520790.1:p.Thr181LeufsTer3
XM_011522489.2:c.676+490del	XP_011520791.1:n.676+490del
XM_011522490.2:c.537del	XP_011520792.1:p.Thr180LeufsTer3
XM_011522491.2:c.789del	XP_011520793.1:p.Thr264LeufsTer3
XM_011522492.2:c.495del	XP_011520794.1:p.Thr166LeufsTer3
XM_011522493.2:c.492del	XP_011520795.1:p.Thr165LeufsTer3
XM_011522494.2:c.423del	XP_011520796.1:p.Thr142LeufsTer3
XM_011522495.2:c.484+490del	XP_011520797.1:n.484+490del
XM_011522496.2:c.481+490del	XP_011520798.1:n.481+490del
XM_024450280.1:c.735del	XP_024306048.1:p.Thr246LeufsTer3
XM_024450281.1:c.724+490del	XP_024306049.1:n.724+490del
XR_001751904.1:n.808del
XR_932841.3:n.806del
XR_932842.2:n.806del
XR_932846.3:n.808del
XR_932847.3:n.808del
NM_001286403.2:c.481+490del	NP_001273332.1:n.481+490del
NR_104444.2:n.621del
NM_000246.4:c.492del MANE Select	NP_000237.2:p.Thr165LeufsTer3
NM_001379330.1:c.484+490del	NP_001366259.1:n.484+490del
NM_001379331.1:c.481+490del	NP_001366260.1:n.481+490del
NM_001379332.1:c.495del	NP_001366261.1:p.Thr166LeufsTer3
NM_001379333.1:c.492del	NP_001366262.1:p.Thr165LeufsTer3
NM_001379334.1:c.423del	NP_001366263.1:p.Thr142LeufsTer3