Canonical Allele Identifier: CA2654789903

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292226-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292228_44292229del , CM000683.2:g.44292228_44292229del	GRCh38
NC_000021.8:g.45712111_45712112del , CM000683.1:g.45712111_45712112del	GRCh37
NC_000021.7:g.44536539_44536540del	NCBI36
NG_009556.1:g.11349_11350del , LRG_18:g.11349_11350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-74_996-73del MANE Select	ENSP00000291582.5:n.996-74_996-73del
ENST00000291582.5:c.996-74_996-73del	ENSP00000291582.5:n.996-74_996-73del
ENST00000337909.5:n.457-74_457-73del
ENST00000397994.8:n.457-74_457-73del
ENST00000527919.5:n.1726-74_1726-73del
ENST00000530812.5:n.2743-74_2743-73del
NM_000383.3:c.996-74_996-73del	NP_000374.1:n.996-74_996-73del
XM_011529551.1:c.993-74_993-73del	XP_011527853.1:n.993-74_993-73del
NM_000383.4:c.996-74_996-73del MANE Select	NP_000374.1:n.996-74_996-73del