Canonical Allele Identifier: CA1515641671
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437329_177437332delinsTAGA , CM000666.2:g.177437329_177437332delinsTAGA GRCh38
NC_000004.11:g.178358483_178358486delinsTAGA , CM000666.1:g.178358483_178358486delinsTAGA GRCh37
NC_000004.10:g.178595477_178595480delinsTAGA NCBI36
NG_011845.2:g.10172_10175delinsTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.622+73_622+76delinsTCTA MANE Select ENSP00000264595.2:n.622+73_622+76delinsTCTA
ENST00000264595.6:c.622+73_622+76delinsTCTA ENSP00000264595.2:n.622+73_622+76delinsTCTA
ENST00000502310.5:c.277+73_277+76delinsTCTA ENSP00000423798.1:n.277+73_277+76delinsTCTA
ENST00000506853.5:n.656+73_656+76delinsTCTA
ENST00000510635.1:c.318+73_318+76delinsTCTA
ENST00000510955.5:n.616_619delinsTCTA
NM_000027.3:c.622+73_622+76delinsTCTA NP_000018.2:n.622+73_622+76delinsTCTA
NM_001171988.1:c.622+73_622+76delinsTCTA NP_001165459.1:n.622+73_622+76delinsTCTA
NR_033655.1:n.750+73_750+76delinsTCTA
XM_006714123.2:c.622+73_622+76delinsTCTA XP_006714186.1:n.622+73_622+76delinsTCTA
XR_001741155.2:n.716+73_716+76delinsTCTA
NM_000027.4:c.622+73_622+76delinsTCTA MANE Select NP_000018.2:n.622+73_622+76delinsTCTA
NM_001171988.2:c.622+73_622+76delinsTCTA NP_001165459.1:n.622+73_622+76delinsTCTA
NR_033655.2:n.684+73_684+76delinsTCTA