Canonical Allele Identifier: CA2654789234

Gene: AIRE

Linked Data

• gnomAD v4: 21-44287340-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287340_44287341insCA , CM000683.2:g.44287340_44287341insCA	GRCh38
NC_000021.8:g.45707223_45707224insCA , CM000683.1:g.45707223_45707224insCA	GRCh37
NC_000021.7:g.44531651_44531652insCA	NCBI36
NG_009556.1:g.6461_6462insCA , LRG_18:g.6461_6462insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.464-177_464-176insCA MANE Select	ENSP00000291582.5:n.464-177_464-176insCA
ENST00000291582.5:c.464-177_464-176insCA	ENSP00000291582.5:n.464-177_464-176insCA
ENST00000527919.5:n.831_832insCA
ENST00000530812.5:n.839_840insCA
NM_000383.3:c.464-177_464-176insCA	NP_000374.1:n.464-177_464-176insCA
XM_011529551.1:c.464-177_464-176insCA	XP_011527853.1:n.464-177_464-176insCA
NM_000383.4:c.464-177_464-176insCA MANE Select	NP_000374.1:n.464-177_464-176insCA