Canonical Allele Identifier: CA10051780

Gene: AIRE

Linked Data

• dbSNP Id: rs778368138
• ExAC: 21:45710674 C / CA
• gnomAD v2: 21-45710674-C-CA
• gnomAD v4: 21-44290791-C-CA
• MyVariant Identifiers: chr21:g.45710674_45710675insA (hg19) ; chr21:g.44290791_44290792insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290791_44290792insA , CM000683.2:g.44290791_44290792insA	GRCh38
NC_000021.8:g.45710674_45710675insA , CM000683.1:g.45710674_45710675insA	GRCh37
NC_000021.7:g.44535102_44535103insA	NCBI36
NG_009556.1:g.9912_9913insA , LRG_18:g.9912_9913insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-304_880-303insA MANE Select	ENSP00000291582.5:n.880-304_880-303insA
ENST00000291582.5:c.880-304_880-303insA	ENSP00000291582.5:n.880-304_880-303insA
ENST00000337909.5:n.37_38insA
ENST00000397994.8:n.37_38insA
ENST00000527919.5:n.1613-307_1613-306insA
ENST00000530812.5:n.2630-307_2630-306insA
NM_000383.3:c.880-304_880-303insA	NP_000374.1:n.880-304_880-303insA
XM_011529551.1:c.880-307_880-306insA	XP_011527853.1:n.880-307_880-306insA
NM_000383.4:c.880-304_880-303insA MANE Select	NP_000374.1:n.880-304_880-303insA