Canonical Allele Identifier: CA10051807
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs757773290
ExAC: 21:45710772 CG / C
gnomAD v2: 21-45710772-CG-C
gnomAD v3: 21-44290889-CG-C
gnomAD v4: 21-44290889-CG-C
COSMIC: COSM1414366 COSM5348214
MyVariant Identifiers: chr21:g.45710773del (hg19) chr21:g.44290890del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290895del , CM000683.2:g.44290895del GRCh38
NC_000021.8:g.45710778del , CM000683.1:g.45710778del GRCh37
NC_000021.7:g.44535206del NCBI36
NG_009556.1:g.10016del , LRG_18:g.10016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-200del MANE Select ENSP00000291582.5:n.880-200del
ENST00000291582.5:c.880-200del ENSP00000291582.5:n.880-200del
ENST00000337909.5:n.141del
ENST00000397994.8:n.141del
ENST00000527919.5:n.1613-203del
ENST00000530812.5:n.2630-203del
NM_000383.3:c.880-200del NP_000374.1:n.880-200del
XM_011529551.1:c.880-203del XP_011527853.1:n.880-203del
NM_000383.4:c.880-200del MANE Select NP_000374.1:n.880-200del
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