Canonical Allele Identifier: CA3146905

Gene: AGA

Linked Data

• dbSNP Id: rs150633580
• ExAC: 4:178359872 A / AT
• gnomAD v2: 4-178359872-A-AT
• gnomAD v3: 4-177438718-A-AT
• gnomAD v4: 4-177438718-A-AT
• MyVariant Identifiers: chr4:g.178359872_178359873insT (hg19) ; chr4:g.177438718_177438719insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438725dup , CM000666.2:g.177438725dup	GRCh38
NC_000004.11:g.178359879dup , CM000666.1:g.178359879dup	GRCh37
NC_000004.10:g.178596873dup	NCBI36
NG_011845.2:g.8785dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+26dup MANE Select	ENSP00000264595.2:n.507+26dup
ENST00000264595.6:c.507+26dup	ENSP00000264595.2:n.507+26dup
ENST00000502310.5:c.162+26dup	ENSP00000423798.1:n.162+26dup
ENST00000506853.5:n.541+26dup
ENST00000510635.1:c.203+26dup
ENST00000510955.5:n.428+26dup
NM_000027.3:c.507+26dup	NP_000018.2:n.507+26dup
NM_001171988.1:c.507+26dup	NP_001165459.1:n.507+26dup
NR_033655.1:n.635+26dup
XM_006714123.2:c.507+26dup	XP_006714186.1:n.507+26dup
XR_001741155.2:n.601+26dup
NM_000027.4:c.507+26dup MANE Select	NP_000018.2:n.507+26dup
NM_001171988.2:c.507+26dup	NP_001165459.1:n.507+26dup
NR_033655.2:n.569+26dup