Canonical Allele Identifier: CA791503769

Gene: AGA

Linked Data

• dbSNP Id: rs1463933379
• gnomAD v3: 4-177442287-A-AC
• gnomAD v4: 4-177442287-A-AC
• MyVariant Identifiers: chr4:g.178363441_178363442insC (hg19) ; chr4:g.177442287_177442288insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442289dup , CM000666.2:g.177442289dup	GRCh38
NC_000004.11:g.178363443dup , CM000666.1:g.178363443dup	GRCh37
NC_000004.10:g.178600437dup	NCBI36
NG_011845.2:g.5216dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.88dup MANE Select	ENSP00000264595.2:p.Val30GlyfsTer8
ENST00000264595.6:c.88dup	ENSP00000264595.2:p.Val30GlyfsTer8
ENST00000506853.5:n.122dup
ENST00000510955.5:n.122dup
ENST00000511231.1:n.122dup
NM_000027.3:c.88dup	NP_000018.2:p.Val30GlyfsTer8
NM_001171988.1:c.88dup	NP_001165459.1:p.Val30GlyfsTer8
NR_033655.1:n.216dup
XM_006714123.2:c.88dup	XP_006714186.1:p.Val30GlyfsTer8
XR_001741155.2:n.182dup
NM_000027.4:c.88dup MANE Select	NP_000018.2:p.Val30GlyfsTer8
NM_001171988.2:c.88dup	NP_001165459.1:p.Val30GlyfsTer8
NR_033655.2:n.150dup