Canonical Allele Identifier: CA1515648101

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441776_177441777delinsTA , CM000666.2:g.177441776_177441777delinsTA	GRCh38
NC_000004.11:g.178362930_178362931delinsTA , CM000666.1:g.178362930_178362931delinsTA	GRCh37
NC_000004.10:g.178599924_178599925delinsTA	NCBI36
NG_011845.2:g.5727_5728delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+472_127+473delinsTA MANE Select	ENSP00000264595.2:n.127+472_127+473delinsTA
ENST00000264595.6:c.127+472_127+473delinsTA	ENSP00000264595.2:n.127+472_127+473delinsTA
ENST00000506853.5:n.161+472_161+473delinsTA
ENST00000510955.5:n.161+472_161+473delinsTA
ENST00000511231.1:n.161+472_161+473delinsTA
NM_000027.3:c.127+472_127+473delinsTA	NP_000018.2:n.127+472_127+473delinsTA
NM_001171988.1:c.127+472_127+473delinsTA	NP_001165459.1:n.127+472_127+473delinsTA
NR_033655.1:n.255+472_255+473delinsTA
XM_006714123.2:c.127+472_127+473delinsTA	XP_006714186.1:n.127+472_127+473delinsTA
XR_001741155.2:n.221+472_221+473delinsTA
NM_000027.4:c.127+472_127+473delinsTA MANE Select	NP_000018.2:n.127+472_127+473delinsTA
NM_001171988.2:c.127+472_127+473delinsTA	NP_001165459.1:n.127+472_127+473delinsTA
NR_033655.2:n.189+472_189+473delinsTA