Canonical Allele Identifier: CA2654790593
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292410-ACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292412_44292450del , CM000683.2:g.44292412_44292450del GRCh38
NC_000021.8:g.45712295_45712333del , CM000683.1:g.45712295_45712333del GRCh37
NC_000021.7:g.44536723_44536761del NCBI36
NG_009556.1:g.11533_11571del , LRG_18:g.11533_11571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+11_1095+49del MANE Select ENSP00000291582.5:n.1095+11_1095+49del
ENST00000291582.5:c.1095+11_1095+49del ENSP00000291582.5:n.1095+11_1095+49del
ENST00000337909.5:n.556+11_556+49del
ENST00000397994.8:n.556+11_556+49del
ENST00000527919.5:n.1825+11_1825+49del
ENST00000530812.5:n.2842+11_2842+49del
NM_000383.3:c.1095+11_1095+49del NP_000374.1:n.1095+11_1095+49del
XM_011529551.1:c.1092+11_1092+49del XP_011527853.1:n.1092+11_1092+49del
NM_000383.4:c.1095+11_1095+49del MANE Select NP_000374.1:n.1095+11_1095+49del
Search 100 bp 5'
Search 100 bp 3'