Canonical Allele Identifier: CA10051622
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs771925480
ExAC: 21:45708221 T / TA
gnomAD v2: 21-45708221-T-TA
gnomAD v4: 21-44288338-T-TA
MyVariant Identifiers: chr21:g.45708221_45708222insA (hg19) chr21:g.44288338_44288339insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288338_44288339insA , CM000683.2:g.44288338_44288339insA GRCh38
NC_000021.8:g.45708221_45708222insA , CM000683.1:g.45708221_45708222insA GRCh37
NC_000021.7:g.44532649_44532650insA NCBI36
NG_009556.1:g.7459_7460insA , LRG_18:g.7459_7460insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.539-7_539-6insA MANE Select ENSP00000291582.5:n.539-7_539-6insA
ENST00000291582.5:c.539-7_539-6insA ENSP00000291582.5:n.539-7_539-6insA
ENST00000527919.5:n.1083-7_1083-6insA
ENST00000530812.5:n.1091-7_1091-6insA
NM_000383.3:c.539-7_539-6insA NP_000374.1:n.539-7_539-6insA
XM_011529551.1:c.539-7_539-6insA XP_011527853.1:n.539-7_539-6insA
NM_000383.4:c.539-7_539-6insA MANE Select NP_000374.1:n.539-7_539-6insA
Search 100 bp 5'
Search 100 bp 3'