Canonical Allele Identifier: CA1022714242

Gene: AIRE

Linked Data

• dbSNP Id: rs2040506870
• gnomAD v3: 21-44288842-GC-G
• gnomAD v4: 21-44288842-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288848del , CM000683.2:g.44288848del	GRCh38
NC_000021.8:g.45708731del , CM000683.1:g.45708731del	GRCh37
NC_000021.7:g.44533159del	NCBI36
NG_009556.1:g.7969del , LRG_18:g.7969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+390del MANE Select	ENSP00000291582.5:n.652+390del
ENST00000291582.5:c.652+390del	ENSP00000291582.5:n.652+390del
ENST00000527919.5:n.1197-380del
ENST00000530812.5:n.1594del
NM_000383.3:c.652+390del	NP_000374.1:n.652+390del
XM_011529551.1:c.652+390del	XP_011527853.1:n.652+390del
NM_000383.4:c.652+390del MANE Select	NP_000374.1:n.652+390del