Canonical Allele Identifier: CA638115956

Gene: AIRE

Linked Data

• dbSNP Id: rs1241039345
• gnomAD v2: 21-45710891-TGGGGG-T
• gnomAD v4: 21-44291008-TGGGGG-T
• MyVariant Identifiers: chr21:g.45710892_45710896del (hg19) ; chr21:g.44291009_44291013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291009_44291013del , CM000683.2:g.44291009_44291013del	GRCh38
NC_000021.8:g.45710892_45710896del , CM000683.1:g.45710892_45710896del	GRCh37
NC_000021.7:g.44535320_44535324del	NCBI36
NG_009556.1:g.10130_10134del , LRG_18:g.10130_10134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-86_880-82del MANE Select	ENSP00000291582.5:n.880-86_880-82del
ENST00000291582.5:c.880-86_880-82del	ENSP00000291582.5:n.880-86_880-82del
ENST00000337909.5:n.255_259del
ENST00000397994.8:n.255_259del
ENST00000527919.5:n.1613-89_1613-85del
ENST00000530812.5:n.2630-89_2630-85del
NM_000383.3:c.880-86_880-82del	NP_000374.1:n.880-86_880-82del
XM_011529551.1:c.880-89_880-85del	XP_011527853.1:n.880-89_880-85del
NM_000383.4:c.880-86_880-82del MANE Select	NP_000374.1:n.880-86_880-82del