Canonical Allele Identifier: CA1071330706

Gene: AGA

Linked Data

• gnomAD v3: 4-177439753-T-TGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAACATG
• gnomAD v4: 4-177439753-T-TGCTTTTCTCCAATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAACATG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439773_177439774insAGTTTTCAGAGGTTCATAGATTAAAAACATGGCTTTTCTCCAATCAATAGT , CM000666.2:g.177439773_177439774insAGTTTTCAGAGGTTCATAGATTAAAAACATGGCTTTTCTCCAATCAATAGT	GRCh38
NC_000004.11:g.178360927_178360928insAGTTTTCAGAGGTTCATAGATTAAAAACATGGCTTTTCTCCAATCAATAGT , CM000666.1:g.178360927_178360928insAGTTTTCAGAGGTTCATAGATTAAAAACATGGCTTTTCTCCAATCAATAGT	GRCh37
NC_000004.10:g.178597921_178597922insAGTTTTCAGAGGTTCATAGATTAAAAACATGGCTTTTCTCCAATCAATAGT	NCBI36
NG_011845.2:g.7750_7751insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC MANE Select	ENSP00000264595.2:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTG...
ENST00000264595.6:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC	ENSP00000264595.2:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTG...
ENST00000506853.5:n.316-66_316-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC
ENST00000510955.5:n.315+519_315+520insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC
NM_000027.3:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC	NP_000018.2:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACT...
NM_001171988.1:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC	NP_001165459.1:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAA...
NR_033655.1:n.410-66_410-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC
XM_006714123.2:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC	XP_006714186.1:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAA...
XR_001741155.2:n.376-66_376-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC
NM_000027.4:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC MANE Select	NP_000018.2:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACT...
NM_001171988.2:c.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC	NP_001165459.1:n.282-66_282-65insCATGTTTTTAATCTATGAACCTCTGAAA...
NR_033655.2:n.344-66_344-65insCATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGATTGGAGAAAAGC