Canonical Allele Identifier: CA749675643

Gene: AIRE

Linked Data

• dbSNP Id: rs1169222910
• gnomAD v4: 21-44286424-A-AGGAGATGGGCG
• MyVariant Identifiers: chr21:g.45706307_45706308insGGAGATGGGCG (hg19) ; chr21:g.44286424_44286425insGGAGATGGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286425_44286435dup , CM000683.2:g.44286425_44286435dup	GRCh38
NC_000021.8:g.45706308_45706318dup , CM000683.1:g.45706308_45706318dup	GRCh37
NC_000021.7:g.44530736_44530746dup	NCBI36
NG_009556.1:g.5546_5556dup , LRG_18:g.5546_5556dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.133-132_133-122dup MANE Select	ENSP00000291582.5:n.133-132_133-122dup
ENST00000291582.5:c.133-132_133-122dup	ENSP00000291582.5:n.133-132_133-122dup
ENST00000527919.5:n.294-132_294-122dup
ENST00000530812.5:n.302-132_302-122dup
NM_000383.3:c.133-132_133-122dup	NP_000374.1:n.133-132_133-122dup
XM_011529551.1:c.133-132_133-122dup	XP_011527853.1:n.133-132_133-122dup
NM_000383.4:c.133-132_133-122dup MANE Select	NP_000374.1:n.133-132_133-122dup