Canonical Allele Identifier: CA1515642005
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437512_177437533delinsATAACATTCTGTAAACAAGATT , CM000666.2:g.177437512_177437533delinsATAACATTCTGTAAACAAGATT GRCh38
NC_000004.11:g.178358666_178358687delinsATAACATTCTGTAAACAAGATT , CM000666.1:g.178358666_178358687delinsATAACATTCTGTAAACAAGATT GRCh37
NC_000004.10:g.178595660_178595681delinsATAACATTCTGTAAACAAGATT NCBI36
NG_011845.2:g.9971_9992delinsAATCTTGTTTACAGAATGTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
ENST00000264595.6:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
ENST00000502310.5:c.163-14_170delinsAATCTTGTTTACAGAATGTTAT
ENST00000506853.5:n.542-14_549delinsAATCTTGTTTACAGAATGTTAT
ENST00000510635.1:c.204-14_211delinsAATCTTGTTTACAGAATGTTAT
ENST00000510955.5:n.429-14_436delinsAATCTTGTTTACAGAATGTTAT
NM_000027.3:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
NM_001171988.1:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
NR_033655.1:n.636-14_643delinsAATCTTGTTTACAGAATGTTAT
XM_006714123.2:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
XR_001741155.2:n.602-14_609delinsAATCTTGTTTACAGAATGTTAT
NM_000027.4:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
NM_001171988.2:c.508-14_515delinsAATCTTGTTTACAGAATGTTAT
NR_033655.2:n.570-14_577delinsAATCTTGTTTACAGAATGTTAT