Canonical Allele Identifier: CA2672747386

Gene: AGA

Linked Data

• gnomAD v4: 4-177438650-C-CAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438651_177438654dup , CM000666.2:g.177438651_177438654dup	GRCh38
NC_000004.11:g.178359805_178359808dup , CM000666.1:g.178359805_178359808dup	GRCh37
NC_000004.10:g.178596799_178596802dup	NCBI36
NG_011845.2:g.8850_8853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.507+91_507+94dup MANE Select	ENSP00000264595.2:n.507+91_507+94dup
ENST00000264595.6:c.507+91_507+94dup	ENSP00000264595.2:n.507+91_507+94dup
ENST00000502310.5:c.162+91_162+94dup	ENSP00000423798.1:n.162+91_162+94dup
ENST00000506853.5:n.541+91_541+94dup
ENST00000510635.1:c.203+91_203+94dup
ENST00000510955.5:n.428+91_428+94dup
NM_000027.3:c.507+91_507+94dup	NP_000018.2:n.507+91_507+94dup
NM_001171988.1:c.507+91_507+94dup	NP_001165459.1:n.507+91_507+94dup
NR_033655.1:n.635+91_635+94dup
XM_006714123.2:c.507+91_507+94dup	XP_006714186.1:n.507+91_507+94dup
XR_001741155.2:n.601+91_601+94dup
NM_000027.4:c.507+91_507+94dup MANE Select	NP_000018.2:n.507+91_507+94dup
NM_001171988.2:c.507+91_507+94dup	NP_001165459.1:n.507+91_507+94dup
NR_033655.2:n.569+91_569+94dup