Canonical Allele Identifier: CA2672747985

Gene: AGA

Linked Data

• gnomAD v4: 4-177439722-G-GAGTTTTCAGAGGTTCATAGATTAAAAGCATTGCTTTTCTCCAATCAATAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439748_177439749insGCATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAA , CM000666.2:g.177439748_177439749insGCATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAA	GRCh38
NC_000004.11:g.178360902_178360903insGCATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAA , CM000666.1:g.178360902_178360903insGCATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAA	GRCh37
NC_000004.10:g.178597896_178597897insGCATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAA	NCBI36
NG_011845.2:g.7781_7782insACTATTGATTGGAGAAAAGCAATGCTTTTAATCTATGAACCTCTGAAAACT

Transcript Alleles

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