Canonical Allele Identifier: CA1515648950

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442199_177442200delinsAC , CM000666.2:g.177442199_177442200delinsAC	GRCh38
NC_000004.11:g.178363353_178363354delinsAC , CM000666.1:g.178363353_178363354delinsAC	GRCh37
NC_000004.10:g.178600347_178600348delinsAC	NCBI36
NG_011845.2:g.5304_5305delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+49_127+50delinsGT MANE Select	ENSP00000264595.2:n.127+49_127+50delinsGT
ENST00000264595.6:c.127+49_127+50delinsGT	ENSP00000264595.2:n.127+49_127+50delinsGT
ENST00000506853.5:n.161+49_161+50delinsGT
ENST00000510955.5:n.161+49_161+50delinsGT
ENST00000511231.1:n.161+49_161+50delinsGT
NM_000027.3:c.127+49_127+50delinsGT	NP_000018.2:n.127+49_127+50delinsGT
NM_001171988.1:c.127+49_127+50delinsGT	NP_001165459.1:n.127+49_127+50delinsGT
NR_033655.1:n.255+49_255+50delinsGT
XM_006714123.2:c.127+49_127+50delinsGT	XP_006714186.1:n.127+49_127+50delinsGT
XR_001741155.2:n.221+49_221+50delinsGT
NM_000027.4:c.127+49_127+50delinsGT MANE Select	NP_000018.2:n.127+49_127+50delinsGT
NM_001171988.2:c.127+49_127+50delinsGT	NP_001165459.1:n.127+49_127+50delinsGT
NR_033655.2:n.189+49_189+50delinsGT