Canonical Allele Identifier: CA2677950692

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270389-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270393_31270394del , CM000668.2:g.31270393_31270394del	GRCh38
NC_000006.11:g.31238170_31238171del , CM000668.1:g.31238170_31238171del	GRCh37
NC_000006.10:g.31346149_31346150del	NCBI36
NG_029422.2:g.6741_6742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.714_715del MANE Select	ENSP00000365402.5:p.Leu239AspfsTer?
ENST00000376228.9:c.714_715del	ENSP00000365402.5:p.Leu239AspfsTer?
ENST00000376237.8:c.*301_*302del	ENSP00000365412.4:n.*301_*302del
ENST00000383329.7:c.714_715del	ENSP00000372819.3:p.Leu239AspfsTer?
ENST00000415537.1:c.664+48_664+49del
ENST00000470363.5:n.32_33del
ENST00000487245.5:n.1073_1074del
ENST00000495835.1:n.903_904del
NM_002117.5:c.714_715del	NP_002108.4:p.Leu239AspfsTer?
NM_002117.6:c.714_715del MANE Select	NP_002108.4:p.Leu239AspfsTer?