Canonical Allele Identifier: CA3693099

Gene: HLA-A

Linked Data

• dbSNP Id: rs200082950
• ExAC: 6:29910716 CA / C
• gnomAD v2: 6-29910716-CA-C
• gnomAD v3: 6-29942939-CA-C
• gnomAD v4: 6-29942939-CA-C
• COSMIC: COSM1724546
• MyVariant Identifiers: chr6:g.29910717del (hg19) ; chr6:g.29910717_29910718delinsG (hg19) ; chr6:g.29942940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29942940del , CM000668.2:g.29942940del	GRCh38
NC_000006.11:g.29910717del , CM000668.1:g.29910717del	GRCh37
NC_000006.10:g.30018696del	NCBI36
NG_029217.2:g.5475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.257del	ENSP00000492789.2:p.Gln86ArgfsTer6
ENST00000706892.1:n.533del
ENST00000706893.1:c.257del	ENSP00000516609.1:p.Gln86ArgfsTer6
ENST00000706894.1:c.257del	ENSP00000516610.1:p.Gln86ArgfsTer6
ENST00000706895.1:n.533del
ENST00000706896.1:n.533del
ENST00000706897.1:n.533del
ENST00000706898.1:c.257del	ENSP00000516611.1:p.Gln86ArgfsTer6
ENST00000706899.1:n.533del
ENST00000706900.1:c.173del	ENSP00000516617.1:p.Gln58ArgfsTer6
ENST00000706901.1:c.257del	ENSP00000516612.1:p.Gln86ArgfsTer6
ENST00000706902.1:c.257del	ENSP00000516613.1:p.Gln86ArgfsTer6
ENST00000706903.1:c.257del	ENSP00000516614.1:p.Gln86ArgfsTer6
ENST00000706904.1:c.257del	ENSP00000516615.1:p.Gln86ArgfsTer6
ENST00000706905.1:c.257del	ENSP00000516616.1:p.Gln86ArgfsTer6
ENST00000376809.10:c.257del MANE Select	ENSP00000366005.5:p.Gln86ArgfsTer6
ENST00000638375.1:c.257del	ENSP00000492789.1:p.Gln86ArgfsTer6
ENST00000376802.2:c.257del	ENSP00000365998.2:p.Gln86ArgfsTer6
ENST00000376806.9:c.257del	ENSP00000366002.5:p.Gln86ArgfsTer6
ENST00000376809.9:c.257del	ENSP00000366005.5:p.Gln86ArgfsTer6
ENST00000396634.5:c.257del	ENSP00000379873.1:p.Gln86ArgfsTer6
ENST00000429656.1:n.128del
ENST00000461903.1:n.257del
ENST00000479320.5:n.257del
ENST00000495183.5:n.259del
ENST00000496081.5:n.177+86del
NM_002116.7:c.257del	NP_002107.3:p.Gln86ArgfsTer6
NM_002116.8:c.257del MANE Select	NP_002107.3:p.Gln86ArgfsTer6