Canonical Allele Identifier: CA1515642152
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437629_177437630delinsTA , CM000666.2:g.177437629_177437630delinsTA GRCh38
NC_000004.11:g.178358783_178358784delinsTA , CM000666.1:g.178358783_178358784delinsTA GRCh37
NC_000004.10:g.178595777_178595778delinsTA NCBI36
NG_011845.2:g.9874_9875delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-111_508-110delinsTA MANE Select ENSP00000264595.2:n.508-111_508-110delinsTA
ENST00000264595.6:c.508-111_508-110delinsTA ENSP00000264595.2:n.508-111_508-110delinsTA
ENST00000502310.5:c.163-111_163-110delinsTA ENSP00000423798.1:n.163-111_163-110delinsTA
ENST00000506853.5:n.542-111_542-110delinsTA
ENST00000510635.1:c.204-111_204-110delinsTA
ENST00000510955.5:n.429-111_429-110delinsTA
NM_000027.3:c.508-111_508-110delinsTA NP_000018.2:n.508-111_508-110delinsTA
NM_001171988.1:c.508-111_508-110delinsTA NP_001165459.1:n.508-111_508-110delinsTA
NR_033655.1:n.636-111_636-110delinsTA
XM_006714123.2:c.508-111_508-110delinsTA XP_006714186.1:n.508-111_508-110delinsTA
XR_001741155.2:n.602-111_602-110delinsTA
NM_000027.4:c.508-111_508-110delinsTA MANE Select NP_000018.2:n.508-111_508-110delinsTA
NM_001171988.2:c.508-111_508-110delinsTA NP_001165459.1:n.508-111_508-110delinsTA
NR_033655.2:n.570-111_570-110delinsTA