Canonical Allele Identifier: CA321794678
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 555124
ClinVar RCV Id: RCV000670877
dbSNP Id: rs1037154559
gnomAD v2: 21-45712286-TATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC-T
gnomAD v3: 21-44292403-TATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC-T
gnomAD v4: 21-44292403-TATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC-T
MyVariant Identifiers: chr21:g.45712287_45712328del (hg19) chr21:g.44292404_44292445del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292424_44292465del , CM000683.2:g.44292424_44292465del GRCh38
NC_000021.8:g.45712307_45712348del , CM000683.1:g.45712307_45712348del GRCh37
NC_000021.7:g.44536735_44536776del NCBI36
NG_009556.1:g.11545_11586del , LRG_18:g.11545_11586del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+23_1095+64del MANE Select ENSP00000291582.5:n.1095+23_1095+64del
ENST00000291582.5:c.1095+23_1095+64del ENSP00000291582.5:n.1095+23_1095+64del
ENST00000337909.5:n.556+23_556+64del
ENST00000397994.8:n.556+23_556+64del
ENST00000527919.5:n.1825+23_1825+64del
ENST00000530812.5:n.2842+23_2842+64del
NM_000383.3:c.1095+23_1095+64del NP_000374.1:n.1095+23_1095+64del
XM_011529551.1:c.1092+23_1092+64del XP_011527853.1:n.1092+23_1092+64del
NM_000383.4:c.1095+23_1095+64del MANE Select NP_000374.1:n.1095+23_1095+64del
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