Canonical Allele Identifier: CA2672748012

Gene: AGA

Linked Data

• gnomAD v4: 4-177439774-G-GTTTTCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439778_177439779insCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTTTTTT , CM000666.2:g.177439778_177439779insCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTTTTTT	GRCh38
NC_000004.11:g.178360932_178360933insCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTTTTTT , CM000666.1:g.178360932_178360933insCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTTTTTT	GRCh37
NC_000004.10:g.178597926_178597927insCAGAGGTTCATAGATTAAAAACATTGCTTTTCTCCAATCAATAGTTTTTT	NCBI36
NG_011845.2:g.7729_7730insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA MANE Select	ENSP00000264595.2:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATG...
ENST00000264595.6:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA	ENSP00000264595.2:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATG...
ENST00000506853.5:n.316-87_316-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA
ENST00000510955.5:n.315+498_315+499insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA
NM_000027.3:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA	NP_000018.2:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTA...
NM_001171988.1:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA	NP_001165459.1:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTT...
NR_033655.1:n.410-87_410-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA
XM_006714123.2:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA	XP_006714186.1:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTT...
XR_001741155.2:n.376-87_376-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA
NM_000027.4:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA MANE Select	NP_000018.2:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTA...
NM_001171988.2:c.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA	NP_001165459.1:n.282-87_282-86insAACTATTGATTGGAGAAAAGCAATGTTT...
NR_033655.2:n.344-87_344-86insAACTATTGATTGGAGAAAAGCAATGTTTTTAATCTATGAACCTCTGAAAA