Canonical Allele Identifier: CA1515644733

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439609_177439640delinsGTTCCAGTACTTTCCGTGCCACACCAATAGCA , CM000666.2:g.177439609_177439640delinsGTTCCAGTACTTTCCGTGCCACACCAATAGCA	GRCh38
NC_000004.11:g.178360763_178360794delinsGTTCCAGTACTTTCCGTGCCACACCAATAGCA , CM000666.1:g.178360763_178360794delinsGTTCCAGTACTTTCCGTGCCACACCAATAGCA	GRCh37
NC_000004.10:g.178597757_178597788delinsGTTCCAGTACTTTCCGTGCCACACCAATAGCA	NCBI36
NG_011845.2:g.7864_7895delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC MANE Select	ENSP00000264595.2:p.Asn110=
ENST00000264595.6:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC	ENSP00000264595.2:p.Asn110=
ENST00000506853.5:n.364_395delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC
ENST00000510635.1:c.26_57delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC
ENST00000510955.5:n.315+633_315+664delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC
NM_000027.3:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC	NP_000018.2:p.Asn110=
NM_001171988.1:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC	NP_001165459.1:p.Asn110=
NR_033655.1:n.458_489delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC
XM_006714123.2:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC	XP_006714186.1:p.Asn110=
XR_001741155.2:n.424_455delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC
NM_000027.4:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC MANE Select	NP_000018.2:p.Asn110=
NM_001171988.2:c.330_361delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC	NP_001165459.1:p.Asn110=
NR_033655.2:n.392_423delinsTGCTATTGGTGTGGCACGGAAAGTACTGGAAC