Canonical Allele Identifier: CA2672747986

Gene: AGA

Linked Data

• gnomAD v4: 4-177439722-G-GAGTTTTCAGAGGTTCATAGATTACAAACATTGCTTTTCTCCAATCAATAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439745_177439746insCAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTA , CM000666.2:g.177439745_177439746insCAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTA	GRCh38
NC_000004.11:g.178360899_178360900insCAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTA , CM000666.1:g.178360899_178360900insCAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTA	GRCh37
NC_000004.10:g.178597893_178597894insCAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTA	NCBI36
NG_011845.2:g.7781_7782insACTATTGATTGGAGAAAAGCAATGTTTGTAATCTATGAACCTCTGAAAACT

Transcript Alleles

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