Canonical Allele Identifier: CA1515641989
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437509_177437511delinsGGT , CM000666.2:g.177437509_177437511delinsGGT GRCh38
NC_000004.11:g.178358663_178358665delinsGGT , CM000666.1:g.178358663_178358665delinsGGT GRCh37
NC_000004.10:g.178595657_178595659delinsGGT NCBI36
NG_011845.2:g.9993_9995delinsACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.516_518delinsACC MANE Select ENSP00000264595.2:p.Ile172=
ENST00000264595.6:c.516_518delinsACC ENSP00000264595.2:p.Ile172=
ENST00000502310.5:c.171_173delinsACC ENSP00000423798.1:p.Ile57=
ENST00000506853.5:n.550_552delinsACC
ENST00000510635.1:c.212_214delinsACC
ENST00000510955.5:n.437_439delinsACC
NM_000027.3:c.516_518delinsACC NP_000018.2:p.Ile172=
NM_001171988.1:c.516_518delinsACC NP_001165459.1:p.Ile172=
NR_033655.1:n.644_646delinsACC
XM_006714123.2:c.516_518delinsACC XP_006714186.1:p.Ile172=
XR_001741155.2:n.610_612delinsACC
NM_000027.4:c.516_518delinsACC MANE Select NP_000018.2:p.Ile172=
NM_001171988.2:c.516_518delinsACC NP_001165459.1:p.Ile172=
NR_033655.2:n.578_580delinsACC