Canonical Allele Identifier: CA1139612572

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439749_177439750insACATTGCTTTTCTCCAATCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAA , CM000666.2:g.177439749_177439750insACATTGCTTTTCTCCAATCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAA	GRCh38
NC_000004.11:g.178360903_178360904insACATTGCTTTTCTCCAATCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAA , CM000666.1:g.178360903_178360904insACATTGCTTTTCTCCAATCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAA	GRCh37
NC_000004.10:g.178597897_178597898insACATTGCTTTTCTCCAATCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAA	NCBI36
NG_011845.2:g.7781_7782insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT MANE Select	ENSP00000264595.2:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCA...
ENST00000264595.6:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT	ENSP00000264595.2:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCA...
ENST00000506853.5:n.316-35_316-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT
ENST00000510955.5:n.315+550_315+551insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT
NM_000027.3:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT	NP_000018.2:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTT...
NM_001171988.1:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT	NP_001165459.1:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATG...
NR_033655.1:n.410-35_410-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT
XM_006714123.2:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT	XP_006714186.1:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATG...
XR_001741155.2:n.376-35_376-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT
NM_000027.4:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT MANE Select	NP_000018.2:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTT...
NM_001171988.2:c.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT	NP_001165459.1:n.282-35_282-34insACTATTGATTGATTGGAGAAAAGCAATG...
NR_033655.2:n.344-35_344-34insACTATTGATTGATTGGAGAAAAGCAATGTTTTTTAATCTATGAACCTCTGAAAACT