Canonical Allele Identifier: CA3693535

Gene: HLA-A

Linked Data

• dbSNP Id: rs752778794
• ExAC: 6:29912027 CAGG / C
• gnomAD v2: 6-29912027-CAGG-C
• gnomAD v3: 6-29944250-CAGG-C
• gnomAD v4: 6-29944250-CAGG-C
• MyVariant Identifiers: chr6:g.29912028_29912030del (hg19) ; chr6:g.29944251_29944253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29944252_29944254del , CM000668.2:g.29944252_29944254del	GRCh38
NC_000006.11:g.29912029_29912031del , CM000668.1:g.29912029_29912031del	GRCh37
NC_000006.10:g.30020008_30020010del	NCBI36
NG_029217.2:g.6788_6790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.750_752del	ENSP00000492789.2:p.Gln250_Asp251delinsHis
ENST00000706892.1:n.1604_1606del
ENST00000706893.1:c.750_752del	ENSP00000516609.1:p.Gln250_Asp251delinsHis
ENST00000706894.1:c.750_752del	ENSP00000516610.1:p.Gln250_Asp251delinsHis
ENST00000706895.1:n.1026_1028del
ENST00000706896.1:n.1604_1606del
ENST00000706897.1:n.1026_1028del
ENST00000706898.1:c.750_752del	ENSP00000516611.1:p.Gln250_Asp251delinsHis
ENST00000706899.1:n.1604_1606del
ENST00000706900.1:c.666_668del	ENSP00000516617.1:p.Gln222_Asp223delinsHis
ENST00000706901.1:c.750_752del	ENSP00000516612.1:p.Gln250_Asp251delinsHis
ENST00000706902.1:c.750_752del	ENSP00000516613.1:p.Gln250_Asp251delinsHis
ENST00000706903.1:c.750_752del	ENSP00000516614.1:p.Gln250_Asp251delinsHis
ENST00000706904.1:c.750_752del	ENSP00000516615.1:p.Gln250_Asp251delinsHis
ENST00000706905.1:c.750_752del	ENSP00000516616.1:p.Gln250_Asp251delinsHis
ENST00000376809.10:c.750_752del MANE Select	ENSP00000366005.5:p.Gln250_Asp251delinsHis
ENST00000638375.1:c.750_752del	ENSP00000492789.1:p.Gln250_Asp251delinsHis
ENST00000376802.2:c.750_752del	ENSP00000365998.2:p.Gln250_Asp251delinsHis
ENST00000376806.9:c.750_752del	ENSP00000366002.5:p.Gln250_Asp251delinsHis
ENST00000376809.9:c.750_752del	ENSP00000366005.5:p.Gln250_Asp251delinsHis
ENST00000396634.5:c.750_752del	ENSP00000379873.1:p.Gln250_Asp251delinsHis
ENST00000461903.1:n.991_993del
ENST00000479320.5:n.991_993del
ENST00000495183.5:n.993_995del
ENST00000496081.5:n.567_569del
NM_002116.7:c.750_752del	NP_002107.3:p.Gln250_Asp251delinsHis
NM_002116.8:c.750_752del MANE Select	NP_002107.3:p.Gln250_Asp251delinsHis