Canonical Allele Identifier: CA3693401

Gene: HLA-A

Linked Data

• dbSNP Id: rs772137187
• ExAC: 6:29911237 A / AGC
• gnomAD v2: 6-29911237-A-AGC
• MyVariant Identifiers: chr6:g.29911237_29911238insGC (hg19) ; chr6:g.29943460_29943461insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29943461_29943462insCG , CM000668.2:g.29943461_29943462insCG	GRCh38
NC_000006.11:g.29911238_29911239insCG , CM000668.1:g.29911238_29911239insCG	GRCh37
NC_000006.10:g.30019217_30019218insCG	NCBI36
NG_029217.2:g.5996_5997insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.537_538insCG	ENSP00000492789.2:p.Leu180ArgfsTer2
ENST00000706892.1:n.813_814insCG
ENST00000706893.1:c.537_538insCG	ENSP00000516609.1:p.Leu180ArgfsTer2
ENST00000706894.1:c.537_538insCG	ENSP00000516610.1:p.Leu180ArgfsTer2
ENST00000706895.1:n.813_814insCG
ENST00000706896.1:n.813_814insCG
ENST00000706897.1:n.813_814insCG
ENST00000706898.1:c.537_538insCG	ENSP00000516611.1:p.Leu180ArgfsTer2
ENST00000706899.1:n.813_814insCG
ENST00000706900.1:c.453_454insCG	ENSP00000516617.1:p.Leu152ArgfsTer2
ENST00000706901.1:c.537_538insCG	ENSP00000516612.1:p.Leu180ArgfsTer2
ENST00000706902.1:c.537_538insCG	ENSP00000516613.1:p.Leu180ArgfsTer2
ENST00000706903.1:c.537_538insCG	ENSP00000516614.1:p.Leu180ArgfsTer2
ENST00000706904.1:c.537_538insCG	ENSP00000516615.1:p.Leu180ArgfsTer2
ENST00000706905.1:c.537_538insCG	ENSP00000516616.1:p.Leu180ArgfsTer2
ENST00000376809.10:c.537_538insCG MANE Select	ENSP00000366005.5:p.Leu180ArgfsTer2
ENST00000638375.1:c.537_538insCG	ENSP00000492789.1:p.Leu180ArgfsTer2
ENST00000376802.2:c.537_538insCG	ENSP00000365998.2:p.Leu180ArgfsTer2
ENST00000376806.9:c.537_538insCG	ENSP00000366002.5:p.Leu180ArgfsTer2
ENST00000376809.9:c.537_538insCG	ENSP00000366005.5:p.Leu180ArgfsTer2
ENST00000396634.5:c.537_538insCG	ENSP00000379873.1:p.Leu180ArgfsTer2
ENST00000461903.1:n.778_779insCG
ENST00000479320.5:n.778_779insCG
ENST00000495183.5:n.780_781insCG
ENST00000496081.5:n.354_355insCG
NM_002116.7:c.537_538insCG	NP_002107.3:p.Leu180ArgfsTer2
NM_002116.8:c.537_538insCG MANE Select	NP_002107.3:p.Leu180ArgfsTer2