Canonical Allele Identifier: CA1515644662
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439591_177439595delinsAAAGT , CM000666.2:g.177439591_177439595delinsAAAGT GRCh38
NC_000004.11:g.178360745_178360749delinsAAAGT , CM000666.1:g.178360745_178360749delinsAAAGT GRCh37
NC_000004.10:g.178597739_178597743delinsAAAGT NCBI36
NG_011845.2:g.7909_7913delinsACTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.375_379delinsACTTT MANE Select ENSP00000264595.2:p.Thr125=
ENST00000264595.6:c.375_379delinsACTTT ENSP00000264595.2:p.Thr125=
ENST00000502310.5:c.30_34delinsACTTT ENSP00000423798.1:p.Thr10=
ENST00000506853.5:n.409_413delinsACTTT
ENST00000510635.1:c.71_75delinsACTTT
ENST00000510955.5:n.315+678_315+682delinsACTTT
NM_000027.3:c.375_379delinsACTTT NP_000018.2:p.Thr125=
NM_001171988.1:c.375_379delinsACTTT NP_001165459.1:p.Thr125=
NR_033655.1:n.503_507delinsACTTT
XM_006714123.2:c.375_379delinsACTTT XP_006714186.1:p.Thr125=
XR_001741155.2:n.469_473delinsACTTT
NM_000027.4:c.375_379delinsACTTT MANE Select NP_000018.2:p.Thr125=
NM_001171988.2:c.375_379delinsACTTT NP_001165459.1:p.Thr125=
NR_033655.2:n.437_441delinsACTTT