Canonical Allele Identifier: CA621175724

Gene: CIITA

Linked Data

• ClinVar Variation Id: 2029447
• ClinVar RCV Id: RCV002894160
• dbSNP Id: rs1567415157
• gnomAD v2: 16-11000396-TG-T
• gnomAD v4: 16-10906539-TG-T
• MyVariant Identifiers: chr16:g.11000397del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10906541del , CM000678.2:g.10906541del	GRCh38
NC_000016.9:g.11000398del , CM000678.1:g.11000398del	GRCh37
NC_000016.8:g.10907899del	NCBI36
NG_009628.1:g.34344del , LRG_49:g.34344del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.1074del
ENST00000324288.14:c.1049del MANE Select	ENSP00000316328.8:p.Gly350ValfsTer11
ENST00000324288.12:c.1049del	ENSP00000316328.8:p.Gly350ValfsTer11
ENST00000381835.9:c.859+1729del	ENSP00000371257.5:n.859+1729del
ENST00000537380.1:n.1006+1729del
ENST00000570546.5:n.1170del
ENST00000573309.5:n.1020del
ENST00000611587.4:c.905del	ENSP00000483487.1:p.Gly302ValfsTer11
ENST00000618207.4:c.1006+1729del	ENSP00000484761.1:n.1006+1729del
ENST00000618327.4:c.1052del	ENSP00000485010.1:p.Gly351ValfsTer11
NM_000246.3:c.1049del , LRG_49t1:c.1049del	NP_000237.2:p.Gly350ValfsTer11
NM_001286402.1:c.1052del	NP_001273331.1:p.Gly351ValfsTer11
NM_001286403.1:c.859+1729del	NP_001273332.1:n.859+1729del
NR_104444.1:n.1139+1729del
XM_006720880.2:c.1346del	XP_006720943.2:p.Gly449ValfsTer11
XM_011522484.1:c.1346del	XP_011520786.1:p.Gly449ValfsTer11
XM_011522485.1:c.1346del	XP_011520787.1:p.Gly449ValfsTer11
XM_011522486.1:c.1346del	XP_011520788.1:p.Gly449ValfsTer11
XM_011522487.1:c.1100del	XP_011520789.1:p.Gly367ValfsTer11
XM_011522488.1:c.1097del	XP_011520790.1:p.Gly366ValfsTer11
XM_011522489.1:c.1097del	XP_011520791.1:p.Gly366ValfsTer11
XM_011522490.1:c.1094del	XP_011520792.1:p.Gly365ValfsTer11
XM_011522491.1:c.1346del	XP_011520793.1:p.Gly449ValfsTer11
XM_011522492.1:c.1052del	XP_011520794.1:p.Gly351ValfsTer11
XM_011522493.1:c.1049del	XP_011520795.1:p.Gly350ValfsTer11
XM_011522494.1:c.980del	XP_011520796.1:p.Gly327ValfsTer11
XM_011522495.1:c.905del	XP_011520797.1:p.Gly302ValfsTer11
XM_011522496.1:c.902del	XP_011520798.1:p.Gly301ValfsTer11
XR_932841.1:n.1361del
XR_932842.1:n.1361del
XR_932843.1:n.1361del
XR_932846.1:n.1361del
XR_932847.1:n.1361del
XR_932848.1:n.1009+1729del
XM_006720880.3:c.1346del	XP_006720943.2:p.Gly449ValfsTer11
XM_011522484.3:c.1346del	XP_011520786.1:p.Gly449ValfsTer11
XM_011522485.2:c.1346del	XP_011520787.1:p.Gly449ValfsTer11
XM_011522486.2:c.1346del	XP_011520788.1:p.Gly449ValfsTer11
XM_011522487.2:c.1100del	XP_011520789.1:p.Gly367ValfsTer11
XM_011522488.2:c.1097del	XP_011520790.1:p.Gly366ValfsTer11
XM_011522489.2:c.1097del	XP_011520791.1:p.Gly366ValfsTer11
XM_011522490.2:c.1094del	XP_011520792.1:p.Gly365ValfsTer11
XM_011522491.2:c.1346del	XP_011520793.1:p.Gly449ValfsTer11
XM_011522492.2:c.1052del	XP_011520794.1:p.Gly351ValfsTer11
XM_011522493.2:c.1049del	XP_011520795.1:p.Gly350ValfsTer11
XM_011522494.2:c.980del	XP_011520796.1:p.Gly327ValfsTer11
XM_011522495.2:c.905del	XP_011520797.1:p.Gly302ValfsTer11
XM_011522496.2:c.902del	XP_011520798.1:p.Gly301ValfsTer11
XM_024450280.1:c.1292del	XP_024306048.1:p.Gly431ValfsTer11
XM_024450281.1:c.1145del	XP_024306049.1:p.Gly382ValfsTer11
XR_001751904.1:n.1365del
XR_932841.3:n.1363del
XR_932842.2:n.1363del
XR_932846.3:n.1365del
XR_932847.3:n.1365del
NM_001286403.2:c.859+1729del	NP_001273332.1:n.859+1729del
NR_104444.2:n.1135+1729del
NM_000246.4:c.1049del MANE Select	NP_000237.2:p.Gly350ValfsTer11
NM_001379330.1:c.905del	NP_001366259.1:p.Gly302ValfsTer11
NM_001379331.1:c.902del	NP_001366260.1:p.Gly301ValfsTer11
NM_001379332.1:c.1052del	NP_001366261.1:p.Gly351ValfsTer11
NM_001379333.1:c.1049del	NP_001366262.1:p.Gly350ValfsTer11
NM_001379334.1:c.980del	NP_001366263.1:p.Gly327ValfsTer11