Canonical Allele Identifier: CA2577620072

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292210-TGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292213_44292216del , CM000683.2:g.44292213_44292216del	GRCh38
NC_000021.8:g.45712096_45712099del , CM000683.1:g.45712096_45712099del	GRCh37
NC_000021.7:g.44536524_44536527del	NCBI36
NG_009556.1:g.11334_11337del , LRG_18:g.11334_11337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-89_996-86del MANE Select	ENSP00000291582.5:n.996-89_996-86del
ENST00000291582.5:c.996-89_996-86del	ENSP00000291582.5:n.996-89_996-86del
ENST00000337909.5:n.457-89_457-86del
ENST00000397994.8:n.457-89_457-86del
ENST00000527919.5:n.1726-89_1726-86del
ENST00000530812.5:n.2743-89_2743-86del
NM_000383.3:c.996-89_996-86del	NP_000374.1:n.996-89_996-86del
XM_011529551.1:c.993-89_993-86del	XP_011527853.1:n.993-89_993-86del
NM_000383.4:c.996-89_996-86del MANE Select	NP_000374.1:n.996-89_996-86del