Canonical Allele Identifier: CA2631712232

Gene: CIITA

Linked Data

• gnomAD v4: 16-10902104-C-CCTGCCTGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902113_10902122dup , CM000678.2:g.10902113_10902122dup	GRCh38
NC_000016.9:g.10995970_10995979dup , CM000678.1:g.10995970_10995979dup	GRCh37
NC_000016.8:g.10903471_10903480dup	NCBI36
NG_009628.1:g.29916_29925dup , LRG_49:g.29916_29925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.582_591dup
ENST00000324288.14:c.557_566dup MANE Select	ENSP00000316328.8:p.Leu190ThrfsTer?
ENST00000324288.12:c.557_566dup	ENSP00000316328.8:p.Leu190ThrfsTer?
ENST00000381835.9:c.482-545_482-536dup	ENSP00000371257.5:n.482-545_482-536dup
ENST00000537380.1:n.557_566dup
ENST00000570546.5:n.678_687dup
ENST00000571186.5:c.*278_*287dup	ENSP00000459829.1:n.*278_*287dup
ENST00000573309.5:n.600-545_600-536dup
ENST00000576601.1:c.485_494dup	ENSP00000459608.1:p.Leu166ThrfsTer?
ENST00000611587.4:c.485-545_485-536dup	ENSP00000483487.1:n.485-545_485-536dup
ENST00000618207.4:c.557_566dup	ENSP00000484761.1:p.Leu190ThrfsTer?
ENST00000618327.4:c.560_569dup	ENSP00000485010.1:p.Leu191ThrfsTer?
NM_000246.3:c.557_566dup , LRG_49t1:c.557_566dup	NP_000237.2:p.Leu190ThrfsTer?
NM_001286402.1:c.560_569dup	NP_001273331.1:p.Leu191ThrfsTer?
NM_001286403.1:c.482-545_482-536dup	NP_001273332.1:n.482-545_482-536dup
NR_104444.1:n.690_699dup
XM_006720880.2:c.854_863dup	XP_006720943.2:p.Leu289ThrfsTer?
XM_011522484.1:c.854_863dup	XP_011520786.1:p.Leu289ThrfsTer?
XM_011522485.1:c.854_863dup	XP_011520787.1:p.Leu289ThrfsTer?
XM_011522486.1:c.854_863dup	XP_011520788.1:p.Leu289ThrfsTer?
XM_011522487.1:c.680-545_680-536dup	XP_011520789.1:n.680-545_680-536dup
XM_011522488.1:c.605_614dup	XP_011520790.1:p.Leu206ThrfsTer?
XM_011522489.1:c.677-545_677-536dup	XP_011520791.1:n.677-545_677-536dup
XM_011522490.1:c.602_611dup	XP_011520792.1:p.Leu205ThrfsTer?
XM_011522491.1:c.854_863dup	XP_011520793.1:p.Leu289ThrfsTer?
XM_011522492.1:c.560_569dup	XP_011520794.1:p.Leu191ThrfsTer?
XM_011522493.1:c.557_566dup	XP_011520795.1:p.Leu190ThrfsTer?
XM_011522494.1:c.488_497dup	XP_011520796.1:p.Leu167ThrfsTer?
XM_011522495.1:c.485-545_485-536dup	XP_011520797.1:n.485-545_485-536dup
XM_011522496.1:c.482-545_482-536dup	XP_011520798.1:n.482-545_482-536dup
XR_932841.1:n.869_878dup
XR_932842.1:n.869_878dup
XR_932843.1:n.869_878dup
XR_932846.1:n.869_878dup
XR_932847.1:n.869_878dup
XR_932848.1:n.632-545_632-536dup
XM_006720880.3:c.854_863dup	XP_006720943.2:p.Leu289ThrfsTer?
XM_011522484.3:c.854_863dup	XP_011520786.1:p.Leu289ThrfsTer?
XM_011522485.2:c.854_863dup	XP_011520787.1:p.Leu289ThrfsTer?
XM_011522486.2:c.854_863dup	XP_011520788.1:p.Leu289ThrfsTer?
XM_011522487.2:c.680-545_680-536dup	XP_011520789.1:n.680-545_680-536dup
XM_011522488.2:c.605_614dup	XP_011520790.1:p.Leu206ThrfsTer?
XM_011522489.2:c.677-545_677-536dup	XP_011520791.1:n.677-545_677-536dup
XM_011522490.2:c.602_611dup	XP_011520792.1:p.Leu205ThrfsTer?
XM_011522491.2:c.854_863dup	XP_011520793.1:p.Leu289ThrfsTer?
XM_011522492.2:c.560_569dup	XP_011520794.1:p.Leu191ThrfsTer?
XM_011522493.2:c.557_566dup	XP_011520795.1:p.Leu190ThrfsTer?
XM_011522494.2:c.488_497dup	XP_011520796.1:p.Leu167ThrfsTer?
XM_011522495.2:c.485-545_485-536dup	XP_011520797.1:n.485-545_485-536dup
XM_011522496.2:c.482-545_482-536dup	XP_011520798.1:n.482-545_482-536dup
XM_024450280.1:c.800_809dup	XP_024306048.1:p.Leu271ThrfsTer?
XM_024450281.1:c.725-545_725-536dup	XP_024306049.1:n.725-545_725-536dup
XR_001751904.1:n.873_882dup
XR_932841.3:n.871_880dup
XR_932842.2:n.871_880dup
XR_932846.3:n.873_882dup
XR_932847.3:n.873_882dup
NM_001286403.2:c.482-545_482-536dup	NP_001273332.1:n.482-545_482-536dup
NR_104444.2:n.686_695dup
NM_000246.4:c.557_566dup MANE Select	NP_000237.2:p.Leu190ThrfsTer?
NM_001379330.1:c.485-545_485-536dup	NP_001366259.1:n.485-545_485-536dup
NM_001379331.1:c.482-545_482-536dup	NP_001366260.1:n.482-545_482-536dup
NM_001379332.1:c.560_569dup	NP_001366261.1:p.Leu191ThrfsTer?
NM_001379333.1:c.557_566dup	NP_001366262.1:p.Leu190ThrfsTer?
NM_001379334.1:c.488_497dup	NP_001366263.1:p.Leu167ThrfsTer?