Canonical Allele Identifier: CA2672748482

Gene: AGA

Linked Data

• gnomAD v4: 4-177442127-A-AGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442133_177442137dup , CM000666.2:g.177442133_177442137dup	GRCh38
NC_000004.11:g.178363287_178363291dup , CM000666.1:g.178363287_178363291dup	GRCh37
NC_000004.10:g.178600281_178600285dup	NCBI36
NG_011845.2:g.5372_5376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+117_127+121dup MANE Select	ENSP00000264595.2:n.127+117_127+121dup
ENST00000264595.6:c.127+117_127+121dup	ENSP00000264595.2:n.127+117_127+121dup
ENST00000506853.5:n.161+117_161+121dup
ENST00000510955.5:n.161+117_161+121dup
ENST00000511231.1:n.161+117_161+121dup
NM_000027.3:c.127+117_127+121dup	NP_000018.2:n.127+117_127+121dup
NM_001171988.1:c.127+117_127+121dup	NP_001165459.1:n.127+117_127+121dup
NR_033655.1:n.255+117_255+121dup
XM_006714123.2:c.127+117_127+121dup	XP_006714186.1:n.127+117_127+121dup
XR_001741155.2:n.221+117_221+121dup
NM_000027.4:c.127+117_127+121dup MANE Select	NP_000018.2:n.127+117_127+121dup
NM_001171988.2:c.127+117_127+121dup	NP_001165459.1:n.127+117_127+121dup
NR_033655.2:n.189+117_189+121dup