Canonical Allele Identifier: CA2654789990

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288570-T-TGACATGGTCTGAATCCCTGGGAAAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288570_44288571insGACATGGTCTGAATCCCTGGGAAAGGGAA , CM000683.2:g.44288570_44288571insGACATGGTCTGAATCCCTGGGAAAGGGAA	GRCh38
NC_000021.8:g.45708453_45708454insGACATGGTCTGAATCCCTGGGAAAGGGAA , CM000683.1:g.45708453_45708454insGACATGGTCTGAATCCCTGGGAAAGGGAA	GRCh37
NC_000021.7:g.44532881_44532882insGACATGGTCTGAATCCCTGGGAAAGGGAA	NCBI36
NG_009556.1:g.7691_7692insGACATGGTCTGAATCCCTGGGAAAGGGAA , LRG_18:g.7691_7692insGACATGGTCTGAATCCCTGGGAAAGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA MANE Select	ENSP00000291582.5:n.652+112_652+113insGACATGGTCTGAATCCCTGGGAA...
ENST00000291582.5:c.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA	ENSP00000291582.5:n.652+112_652+113insGACATGGTCTGAATCCCTGGGAA...
ENST00000527919.5:n.1196+112_1196+113insGACATGGTCTGAATCCCTGGGAAAGGGAA
ENST00000530812.5:n.1316_1317insGACATGGTCTGAATCCCTGGGAAAGGGAA
NM_000383.3:c.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA	NP_000374.1:n.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA...
XM_011529551.1:c.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA	XP_011527853.1:n.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGG...
NM_000383.4:c.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA MANE Select	NP_000374.1:n.652+112_652+113insGACATGGTCTGAATCCCTGGGAAAGGGAA...