Canonical Allele Identifier: CA2654789458

Gene: AIRE

Linked Data

• gnomAD v4: 21-44287624-T-TCCCTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287628_44287629insTGCCCCT , CM000683.2:g.44287628_44287629insTGCCCCT	GRCh38
NC_000021.8:g.45707511_45707512insTGCCCCT , CM000683.1:g.45707511_45707512insTGCCCCT	GRCh37
NC_000021.7:g.44531939_44531940insTGCCCCT	NCBI36
NG_009556.1:g.6749_6750insTGCCCCT , LRG_18:g.6749_6750insTGCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.538+37_538+38insTGCCCCT MANE Select	ENSP00000291582.5:n.538+37_538+38insTGCCCCT
ENST00000291582.5:c.538+37_538+38insTGCCCCT	ENSP00000291582.5:n.538+37_538+38insTGCCCCT
ENST00000527919.5:n.1082+37_1082+38insTGCCCCT
ENST00000530812.5:n.1090+37_1090+38insTGCCCCT
NM_000383.3:c.538+37_538+38insTGCCCCT	NP_000374.1:n.538+37_538+38insTGCCCCT
XM_011529551.1:c.538+37_538+38insTGCCCCT	XP_011527853.1:n.538+37_538+38insTGCCCCT
NM_000383.4:c.538+37_538+38insTGCCCCT MANE Select	NP_000374.1:n.538+37_538+38insTGCCCCT