Canonical Allele Identifier: CA2563361455
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439181_177439182insTCTCTTAAA , CM000666.2:g.177439181_177439182insTCTCTTAAA GRCh38
NC_000004.11:g.178360335_178360336insTCTCTTAAA , CM000666.1:g.178360335_178360336insTCTCTTAAA GRCh37
NC_000004.10:g.178597329_178597330insTCTCTTAAA NCBI36
NG_011845.2:g.8322_8323insTTTAAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.395-325_395-324insTTTAAGAGA MANE Select ENSP00000264595.2:n.395-325_395-324insTTTAAGAGA
ENST00000264595.6:c.395-325_395-324insTTTAAGAGA ENSP00000264595.2:n.395-325_395-324insTTTAAGAGA
ENST00000502310.5:c.50-325_50-324insTTTAAGAGA ENSP00000423798.1:n.50-325_50-324insTTTAAGAGA
ENST00000506853.5:n.429-325_429-324insTTTAAGAGA
ENST00000510635.1:c.91-325_91-324insTTTAAGAGA
ENST00000510955.5:n.316-325_316-324insTTTAAGAGA
NM_000027.3:c.395-325_395-324insTTTAAGAGA NP_000018.2:n.395-325_395-324insTTTAAGAGA
NM_001171988.1:c.395-325_395-324insTTTAAGAGA NP_001165459.1:n.395-325_395-324insTTTAAGAGA
NR_033655.1:n.523-325_523-324insTTTAAGAGA
XM_006714123.2:c.395-325_395-324insTTTAAGAGA XP_006714186.1:n.395-325_395-324insTTTAAGAGA
XR_001741155.2:n.489-325_489-324insTTTAAGAGA
NM_000027.4:c.395-325_395-324insTTTAAGAGA MANE Select NP_000018.2:n.395-325_395-324insTTTAAGAGA
NM_001171988.2:c.395-325_395-324insTTTAAGAGA NP_001165459.1:n.395-325_395-324insTTTAAGAGA
NR_033655.2:n.457-325_457-324insTTTAAGAGA