Canonical Allele Identifier: CA1515648130
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177441812_177441814delinsGAA , CM000666.2:g.177441812_177441814delinsGAA GRCh38
NC_000004.11:g.178362966_178362968delinsGAA , CM000666.1:g.178362966_178362968delinsGAA GRCh37
NC_000004.10:g.178599960_178599962delinsGAA NCBI36
NG_011845.2:g.5690_5692delinsTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+435_127+437delinsTTC MANE Select ENSP00000264595.2:n.127+435_127+437delinsTTC
ENST00000264595.6:c.127+435_127+437delinsTTC ENSP00000264595.2:n.127+435_127+437delinsTTC
ENST00000506853.5:n.161+435_161+437delinsTTC
ENST00000510955.5:n.161+435_161+437delinsTTC
ENST00000511231.1:n.161+435_161+437delinsTTC
NM_000027.3:c.127+435_127+437delinsTTC NP_000018.2:n.127+435_127+437delinsTTC
NM_001171988.1:c.127+435_127+437delinsTTC NP_001165459.1:n.127+435_127+437delinsTTC
NR_033655.1:n.255+435_255+437delinsTTC
XM_006714123.2:c.127+435_127+437delinsTTC XP_006714186.1:n.127+435_127+437delinsTTC
XR_001741155.2:n.221+435_221+437delinsTTC
NM_000027.4:c.127+435_127+437delinsTTC MANE Select NP_000018.2:n.127+435_127+437delinsTTC
NM_001171988.2:c.127+435_127+437delinsTTC NP_001165459.1:n.127+435_127+437delinsTTC
NR_033655.2:n.189+435_189+437delinsTTC