Canonical Allele Identifier: CA2578238507
Gene: AGA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438714_177438718del , CM000666.2:g.177438714_177438718del GRCh38
NC_000004.11:g.178359868_178359872del , CM000666.1:g.178359868_178359872del GRCh37
NC_000004.10:g.178596862_178596866del NCBI36
NG_011845.2:g.8789_8793del

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+30_507+34del MANE Select ENSP00000264595.2:n.507+30_507+34del
ENST00000264595.6:c.507+30_507+34del ENSP00000264595.2:n.507+30_507+34del
ENST00000502310.5:c.162+30_162+34del ENSP00000423798.1:n.162+30_162+34del
ENST00000506853.5:n.541+30_541+34del
ENST00000510635.1:c.203+30_203+34del
ENST00000510955.5:n.428+30_428+34del
NM_000027.3:c.507+30_507+34del NP_000018.2:n.507+30_507+34del
NM_001171988.1:c.507+30_507+34del NP_001165459.1:n.507+30_507+34del
NR_033655.1:n.635+30_635+34del
XM_006714123.2:c.507+30_507+34del XP_006714186.1:n.507+30_507+34del
XR_001741155.2:n.601+30_601+34del
NM_000027.4:c.507+30_507+34del MANE Select NP_000018.2:n.507+30_507+34del
NM_001171988.2:c.507+30_507+34del NP_001165459.1:n.507+30_507+34del
NR_033655.2:n.569+30_569+34del
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