Canonical Allele Identifier: CA2672748003

Gene: AGA

Linked Data

• gnomAD v4: 4-177439764-A-AATCAATAGTAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439773_177439774insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCTATCAATAGT , CM000666.2:g.177439773_177439774insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCTATCAATAGT	GRCh38
NC_000004.11:g.178360927_178360928insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCTATCAATAGT , CM000666.1:g.178360927_178360928insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCTATCAATAGT	GRCh37
NC_000004.10:g.178597921_178597922insAGTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCTATCAATAGT	NCBI36
NG_011845.2:g.7739_7740insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT MANE Select	ENSP00000264595.2:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCT...
ENST00000264595.6:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT	ENSP00000264595.2:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCT...
ENST00000506853.5:n.316-77_316-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT
ENST00000510955.5:n.315+508_315+509insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT
NM_000027.3:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT	NP_000018.2:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAAC...
NM_001171988.1:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT	NP_001165459.1:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATG...
NR_033655.1:n.410-77_410-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT
XM_006714123.2:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT	XP_006714186.1:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATG...
XR_001741155.2:n.376-77_376-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT
NM_000027.4:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT MANE Select	NP_000018.2:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAAC...
NM_001171988.2:c.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT	NP_001165459.1:n.282-77_282-76insAGGAGAAAAGCAATGTTTTTAATCTATG...
NR_033655.2:n.344-77_344-76insAGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAACTACTATTGAT