Canonical Allele Identifier: CA1071330690

Gene: AGA

Linked Data

• gnomAD v3: 4-177439722-G-GAGTTTTCAGAGGTTCATAGAATAAAAACATTGCTTTTCTCCAATCAATAGT
• gnomAD v4: 4-177439722-G-GAGTTTTCAGAGGTTCATAGAATAAAAACATTGCTTTTCTCCAATCAATAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439742_177439743insATAAAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGA , CM000666.2:g.177439742_177439743insATAAAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGA	GRCh38
NC_000004.11:g.178360896_178360897insATAAAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGA , CM000666.1:g.178360896_178360897insATAAAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGA	GRCh37
NC_000004.10:g.178597890_178597891insATAAAAACATTGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGA	NCBI36
NG_011845.2:g.7781_7782insACTATTGATTGGAGAAAAGCAATGTTTTTATTCTATGAACCTCTGAAAACT

Transcript Alleles

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