Canonical Allele Identifier: CA749679948

Gene: AIRE

Linked Data

• dbSNP Id: rs1257788676
• MyVariant Identifiers: chr21:g.45710101_45710102insATG (hg19) ; chr21:g.44290218_44290219insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290218_44290219insATG , CM000683.2:g.44290218_44290219insATG	GRCh38
NC_000021.8:g.45710101_45710102insATG , CM000683.1:g.45710101_45710102insATG	GRCh37
NC_000021.7:g.44534529_44534530insATG	NCBI36
NG_009556.1:g.9339_9340insATG , LRG_18:g.9339_9340insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+150_879+151insATG MANE Select	ENSP00000291582.5:n.879+150_879+151insATG
ENST00000291582.5:c.879+150_879+151insATG	ENSP00000291582.5:n.879+150_879+151insATG
ENST00000527919.5:n.1612+150_1612+151insATG
ENST00000530812.5:n.2629+150_2629+151insATG
NM_000383.3:c.879+150_879+151insATG	NP_000374.1:n.879+150_879+151insATG
XM_011529551.1:c.879+150_879+151insATG	XP_011527853.1:n.879+150_879+151insATG
NM_000383.4:c.879+150_879+151insATG MANE Select	NP_000374.1:n.879+150_879+151insATG