Canonical Allele Identifier: CA2672747984

Gene: AGA

Linked Data

• gnomAD v4: 4-177439722-G-GTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439722_177439723insTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT , CM000666.2:g.177439722_177439723insTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT	GRCh38
NC_000004.11:g.178360876_178360877insTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT , CM000666.1:g.178360876_178360877insTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT	GRCh37
NC_000004.10:g.178597870_178597871insTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGT	NCBI36
NG_011845.2:g.7781_7782insACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA

Transcript Alleles

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