Canonical Allele Identifier: CA791503416

Gene: AGA

Linked Data

• dbSNP Id: rs1485296227
• MyVariant Identifiers: chr4:g.178363271_178363272insGGGACCGCG (hg19) ; chr4:g.177442117_177442118insGGGACCGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442118_177442126dup , CM000666.2:g.177442118_177442126dup	GRCh38
NC_000004.11:g.178363272_178363280dup , CM000666.1:g.178363272_178363280dup	GRCh37
NC_000004.10:g.178600266_178600274dup	NCBI36
NG_011845.2:g.5378_5386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+123_127+131dup MANE Select	ENSP00000264595.2:n.127+123_127+131dup
ENST00000264595.6:c.127+123_127+131dup	ENSP00000264595.2:n.127+123_127+131dup
ENST00000506853.5:n.161+123_161+131dup
ENST00000510955.5:n.161+123_161+131dup
ENST00000511231.1:n.161+123_161+131dup
NM_000027.3:c.127+123_127+131dup	NP_000018.2:n.127+123_127+131dup
NM_001171988.1:c.127+123_127+131dup	NP_001165459.1:n.127+123_127+131dup
NR_033655.1:n.255+123_255+131dup
XM_006714123.2:c.127+123_127+131dup	XP_006714186.1:n.127+123_127+131dup
XR_001741155.2:n.221+123_221+131dup
NM_000027.4:c.127+123_127+131dup MANE Select	NP_000018.2:n.127+123_127+131dup
NM_001171988.2:c.127+123_127+131dup	NP_001165459.1:n.127+123_127+131dup
NR_033655.2:n.189+123_189+131dup