Canonical Allele Identifier: CA621175843

Gene: CIITA

Linked Data

• ClinVar Variation Id: 2018503
• ClinVar RCV Id: RCV002862035
• dbSNP Id: rs1371331693
• gnomAD v2: 16-10995994-AGCCAGCCTCCG-A
• gnomAD v3: 16-10902137-AGCCAGCCTCCG-A
• gnomAD v4: 16-10902137-AGCCAGCCTCCG-A
• MyVariant Identifiers: chr16:g.10995995_10996005del (hg19) ; chr16:g.10902138_10902148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902143_10902153del , CM000678.2:g.10902143_10902153del	GRCh38
NC_000016.9:g.10996000_10996010del , CM000678.1:g.10996000_10996010del	GRCh37
NC_000016.8:g.10903501_10903511del	NCBI36
NG_009628.1:g.29946_29956del , LRG_49:g.29946_29956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.612_622del
ENST00000324288.14:c.587_597del MANE Select	ENSP00000316328.8:p.Ala196AspfsTer25
ENST00000324288.12:c.587_597del	ENSP00000316328.8:p.Ala196AspfsTer25
ENST00000381835.9:c.482-515_482-505del	ENSP00000371257.5:n.482-515_482-505del
ENST00000537380.1:n.587_597del
ENST00000570546.5:n.708_718del
ENST00000571186.5:c.*308_*318del	ENSP00000459829.1:n.*308_*318del
ENST00000573309.5:n.600-515_600-505del
ENST00000576601.1:c.515_525del	ENSP00000459608.1:p.Ala172AspfsTer?
ENST00000611587.4:c.485-515_485-505del	ENSP00000483487.1:n.485-515_485-505del
ENST00000618207.4:c.587_597del	ENSP00000484761.1:p.Ala196AspfsTer25
ENST00000618327.4:c.590_600del	ENSP00000485010.1:p.Ala197AspfsTer25
NM_000246.3:c.587_597del , LRG_49t1:c.587_597del	NP_000237.2:p.Ala196AspfsTer25
NM_001286402.1:c.590_600del	NP_001273331.1:p.Ala197AspfsTer25
NM_001286403.1:c.482-515_482-505del	NP_001273332.1:n.482-515_482-505del
NR_104444.1:n.720_730del
XM_006720880.2:c.884_894del	XP_006720943.2:p.Ala295AspfsTer25
XM_011522484.1:c.884_894del	XP_011520786.1:p.Ala295AspfsTer25
XM_011522485.1:c.884_894del	XP_011520787.1:p.Ala295AspfsTer25
XM_011522486.1:c.884_894del	XP_011520788.1:p.Ala295AspfsTer25
XM_011522487.1:c.680-515_680-505del	XP_011520789.1:n.680-515_680-505del
XM_011522488.1:c.635_645del	XP_011520790.1:p.Ala212AspfsTer25
XM_011522489.1:c.677-515_677-505del	XP_011520791.1:n.677-515_677-505del
XM_011522490.1:c.632_642del	XP_011520792.1:p.Ala211AspfsTer25
XM_011522491.1:c.884_894del	XP_011520793.1:p.Ala295AspfsTer25
XM_011522492.1:c.590_600del	XP_011520794.1:p.Ala197AspfsTer25
XM_011522493.1:c.587_597del	XP_011520795.1:p.Ala196AspfsTer25
XM_011522494.1:c.518_528del	XP_011520796.1:p.Ala173AspfsTer25
XM_011522495.1:c.485-515_485-505del	XP_011520797.1:n.485-515_485-505del
XM_011522496.1:c.482-515_482-505del	XP_011520798.1:n.482-515_482-505del
XR_932841.1:n.899_909del
XR_932842.1:n.899_909del
XR_932843.1:n.899_909del
XR_932846.1:n.899_909del
XR_932847.1:n.899_909del
XR_932848.1:n.632-515_632-505del
XM_006720880.3:c.884_894del	XP_006720943.2:p.Ala295AspfsTer25
XM_011522484.3:c.884_894del	XP_011520786.1:p.Ala295AspfsTer25
XM_011522485.2:c.884_894del	XP_011520787.1:p.Ala295AspfsTer25
XM_011522486.2:c.884_894del	XP_011520788.1:p.Ala295AspfsTer25
XM_011522487.2:c.680-515_680-505del	XP_011520789.1:n.680-515_680-505del
XM_011522488.2:c.635_645del	XP_011520790.1:p.Ala212AspfsTer25
XM_011522489.2:c.677-515_677-505del	XP_011520791.1:n.677-515_677-505del
XM_011522490.2:c.632_642del	XP_011520792.1:p.Ala211AspfsTer25
XM_011522491.2:c.884_894del	XP_011520793.1:p.Ala295AspfsTer25
XM_011522492.2:c.590_600del	XP_011520794.1:p.Ala197AspfsTer25
XM_011522493.2:c.587_597del	XP_011520795.1:p.Ala196AspfsTer25
XM_011522494.2:c.518_528del	XP_011520796.1:p.Ala173AspfsTer25
XM_011522495.2:c.485-515_485-505del	XP_011520797.1:n.485-515_485-505del
XM_011522496.2:c.482-515_482-505del	XP_011520798.1:n.482-515_482-505del
XM_024450280.1:c.830_840del	XP_024306048.1:p.Ala277AspfsTer25
XM_024450281.1:c.725-515_725-505del	XP_024306049.1:n.725-515_725-505del
XR_001751904.1:n.903_913del
XR_932841.3:n.901_911del
XR_932842.2:n.901_911del
XR_932846.3:n.903_913del
XR_932847.3:n.903_913del
NM_001286403.2:c.482-515_482-505del	NP_001273332.1:n.482-515_482-505del
NR_104444.2:n.716_726del
NM_000246.4:c.587_597del MANE Select	NP_000237.2:p.Ala196AspfsTer25
NM_001379330.1:c.485-515_485-505del	NP_001366259.1:n.485-515_485-505del
NM_001379331.1:c.482-515_482-505del	NP_001366260.1:n.482-515_482-505del
NM_001379332.1:c.590_600del	NP_001366261.1:p.Ala197AspfsTer25
NM_001379333.1:c.587_597del	NP_001366262.1:p.Ala196AspfsTer25
NM_001379334.1:c.518_528del	NP_001366263.1:p.Ala173AspfsTer25