Canonical Allele Identifier: CA621175842

Gene: CIITA

Linked Data

• dbSNP Id: rs1237160705
• gnomAD v2: 16-10995899-G-GC
• MyVariant Identifiers: chr16:g.10995899_10995900insC (hg19) ; chr16:g.10902042_10902043insC (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.517dup
ENST00000324288.14:c.492dup MANE Select	ENSP00000316328.8:p.Thr165HisfsTer?
ENST00000637439.1:c.726dup	ENSP00000489907.1:p.Thr243HisfsTer?
ENST00000324288.12:c.492dup	ENSP00000316328.8:p.Thr165HisfsTer?
ENST00000381835.9:c.481+490dup	ENSP00000371257.5:n.481+490dup
ENST00000537380.1:n.492dup
ENST00000570546.5:n.613dup
ENST00000571186.5:c.*213dup	ENSP00000459829.1:n.*213dup
ENST00000573309.5:n.599+490dup
ENST00000576601.1:c.420dup	ENSP00000459608.1:p.Thr141HisfsTer?
ENST00000611587.4:c.484+490dup	ENSP00000483487.1:n.484+490dup
ENST00000618207.4:c.492dup	ENSP00000484761.1:p.Thr165HisfsTer?
ENST00000618327.4:c.495dup	ENSP00000485010.1:p.Thr166HisfsTer?
NM_000246.3:c.492dup , LRG_49t1:c.492dup	NP_000237.2:p.Thr165HisfsTer?
NM_001286402.1:c.495dup	NP_001273331.1:p.Thr166HisfsTer?
NM_001286403.1:c.481+490dup	NP_001273332.1:n.481+490dup
NR_104444.1:n.625dup
XM_006720880.2:c.789dup	XP_006720943.2:p.Thr264HisfsTer?
XM_011522484.1:c.789dup	XP_011520786.1:p.Thr264HisfsTer?
XM_011522485.1:c.789dup	XP_011520787.1:p.Thr264HisfsTer?
XM_011522486.1:c.789dup	XP_011520788.1:p.Thr264HisfsTer?
XM_011522487.1:c.679+490dup	XP_011520789.1:n.679+490dup
XM_011522488.1:c.540dup	XP_011520790.1:p.Thr181HisfsTer?
XM_011522489.1:c.676+490dup	XP_011520791.1:n.676+490dup
XM_011522490.1:c.537dup	XP_011520792.1:p.Thr180HisfsTer?
XM_011522491.1:c.789dup	XP_011520793.1:p.Thr264HisfsTer?
XM_011522492.1:c.495dup	XP_011520794.1:p.Thr166HisfsTer?
XM_011522493.1:c.492dup	XP_011520795.1:p.Thr165HisfsTer?
XM_011522494.1:c.423dup	XP_011520796.1:p.Thr142HisfsTer?
XM_011522495.1:c.484+490dup	XP_011520797.1:n.484+490dup
XM_011522496.1:c.481+490dup	XP_011520798.1:n.481+490dup
XR_932841.1:n.804dup
XR_932842.1:n.804dup
XR_932843.1:n.804dup
XR_932846.1:n.804dup
XR_932847.1:n.804dup
XR_932848.1:n.631+490dup
XM_006720880.3:c.789dup	XP_006720943.2:p.Thr264HisfsTer?
XM_011522484.3:c.789dup	XP_011520786.1:p.Thr264HisfsTer?
XM_011522485.2:c.789dup	XP_011520787.1:p.Thr264HisfsTer?
XM_011522486.2:c.789dup	XP_011520788.1:p.Thr264HisfsTer?
XM_011522487.2:c.679+490dup	XP_011520789.1:n.679+490dup
XM_011522488.2:c.540dup	XP_011520790.1:p.Thr181HisfsTer?
XM_011522489.2:c.676+490dup	XP_011520791.1:n.676+490dup
XM_011522490.2:c.537dup	XP_011520792.1:p.Thr180HisfsTer?
XM_011522491.2:c.789dup	XP_011520793.1:p.Thr264HisfsTer?
XM_011522492.2:c.495dup	XP_011520794.1:p.Thr166HisfsTer?
XM_011522493.2:c.492dup	XP_011520795.1:p.Thr165HisfsTer?
XM_011522494.2:c.423dup	XP_011520796.1:p.Thr142HisfsTer?
XM_011522495.2:c.484+490dup	XP_011520797.1:n.484+490dup
XM_011522496.2:c.481+490dup	XP_011520798.1:n.481+490dup
XM_024450280.1:c.735dup	XP_024306048.1:p.Thr246HisfsTer?
XM_024450281.1:c.724+490dup	XP_024306049.1:n.724+490dup
XR_001751904.1:n.808dup
XR_932841.3:n.806dup
XR_932842.2:n.806dup
XR_932846.3:n.808dup
XR_932847.3:n.808dup
NM_001286403.2:c.481+490dup	NP_001273332.1:n.481+490dup
NR_104444.2:n.621dup
NM_000246.4:c.492dup MANE Select	NP_000237.2:p.Thr165HisfsTer?
NM_001379330.1:c.484+490dup	NP_001366259.1:n.484+490dup
NM_001379331.1:c.481+490dup	NP_001366260.1:n.481+490dup
NM_001379332.1:c.495dup	NP_001366261.1:p.Thr166HisfsTer?
NM_001379333.1:c.492dup	NP_001366262.1:p.Thr165HisfsTer?
NM_001379334.1:c.423dup	NP_001366263.1:p.Thr142HisfsTer?