Canonical Allele Identifier: CA749685082

Gene: AIRE

Linked Data

• dbSNP Id: rs1444765965
• gnomAD v3: 21-44296262-G-GA
• gnomAD v4: 21-44296262-G-GA
• MyVariant Identifiers: chr21:g.45716145_45716146insA (hg19) ; chr21:g.44296262_44296263insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296262_44296263insA , CM000683.2:g.44296262_44296263insA	GRCh38
NC_000021.8:g.45716145_45716146insA , CM000683.1:g.45716145_45716146insA	GRCh37
NC_000021.7:g.44540573_44540574insA	NCBI36
NG_009556.1:g.15383_15384insA , LRG_18:g.15383_15384insA
NG_034033.1:g.1229_1230insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-121_1504-120insA MANE Select	ENSP00000291582.5:n.1504-121_1504-120insA
ENST00000291582.5:c.1504-121_1504-120insA	ENSP00000291582.5:n.1504-121_1504-120insA
ENST00000337909.5:n.965-121_965-120insA
ENST00000397994.8:n.883-121_883-120insA
ENST00000527919.5:n.2263-121_2263-120insA
ENST00000530812.5:n.3251-121_3251-120insA
NM_000383.3:c.1504-121_1504-120insA	NP_000374.1:n.1504-121_1504-120insA
XM_011529551.1:c.1501-121_1501-120insA	XP_011527853.1:n.1501-121_1501-120insA
NM_000383.4:c.1504-121_1504-120insA MANE Select	NP_000374.1:n.1504-121_1504-120insA