Canonical Allele Identifier: CA2654789850

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288459-G-GCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288459_44288460insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC , CM000683.2:g.44288459_44288460insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	GRCh38
NC_000021.8:g.45708342_45708343insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC , CM000683.1:g.45708342_45708343insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	GRCh37
NC_000021.7:g.44532770_44532771insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	NCBI36
NG_009556.1:g.7580_7581insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC , LRG_18:g.7580_7581insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC MANE Select	ENSP00000291582.5:n.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGG...
ENST00000291582.5:c.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	ENSP00000291582.5:n.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGG...
ENST00000527919.5:n.1196+1_1196+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC
ENST00000530812.5:n.1205_1206insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC
NM_000383.3:c.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	NP_000374.1:n.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGA...
XM_011529551.1:c.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC	XP_011527853.1:n.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGG...
NM_000383.4:c.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGAGTTC MANE Select	NP_000374.1:n.652+1_652+2insCGGCTCCAAGAAGTGCATCCAGGTTGGTGGGGA...