Canonical Allele Identifier: CA10051799
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs752100711
ExAC: 21:45710761 AG / A
gnomAD v2: 21-45710761-AG-A
gnomAD v3: 21-44290878-AG-A
gnomAD v4: 21-44290878-AG-A
MyVariant Identifiers: chr21:g.45710762del (hg19) chr21:g.44290879del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290881del , CM000683.2:g.44290881del GRCh38
NC_000021.8:g.45710764del , CM000683.1:g.45710764del GRCh37
NC_000021.7:g.44535192del NCBI36
NG_009556.1:g.10002del , LRG_18:g.10002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-214del MANE Select ENSP00000291582.5:n.880-214del
ENST00000291582.5:c.880-214del ENSP00000291582.5:n.880-214del
ENST00000337909.5:n.127del
ENST00000397994.8:n.127del
ENST00000527919.5:n.1613-217del
ENST00000530812.5:n.2630-217del
NM_000383.3:c.880-214del NP_000374.1:n.880-214del
XM_011529551.1:c.880-217del XP_011527853.1:n.880-217del
NM_000383.4:c.880-214del MANE Select NP_000374.1:n.880-214del
Search 100 bp 5'
Search 100 bp 3'