Canonical Allele Identifier: CA110790920

Gene: AGA

Linked Data

• ClinVar Variation Id: 1271133
• ClinVar RCV Id: RCV001680654
• dbSNP Id: rs746624930
• gnomAD v2: 4-178361805-G-GTT
• gnomAD v3: 4-177440651-G-GTT
• gnomAD v4: 4-177440651-G-GTT
• MyVariant Identifiers: chr4:g.178361807_178361808insTT (hg19) ; chr4:g.178361805_178361806insTT (hg19) ; chr4:g.177440653_177440654insTT (hg38) ; chr4:g.177440651_177440652insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440663_177440664dup , CM000666.2:g.177440663_177440664dup	GRCh38
NC_000004.11:g.178361817_178361818dup , CM000666.1:g.178361817_178361818dup	GRCh37
NC_000004.10:g.178598811_178598812dup	NCBI36
NG_011845.2:g.6851_6852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-227_128-226dup MANE Select	ENSP00000264595.2:n.128-227_128-226dup
ENST00000264595.6:c.128-227_128-226dup	ENSP00000264595.2:n.128-227_128-226dup
ENST00000506853.5:n.162-227_162-226dup
ENST00000510955.5:n.162-227_162-226dup
ENST00000511231.1:n.162-227_162-226dup
NM_000027.3:c.128-227_128-226dup	NP_000018.2:n.128-227_128-226dup
NM_001171988.1:c.128-227_128-226dup	NP_001165459.1:n.128-227_128-226dup
NR_033655.1:n.256-227_256-226dup
XM_006714123.2:c.128-227_128-226dup	XP_006714186.1:n.128-227_128-226dup
XR_001741155.2:n.222-227_222-226dup
NM_000027.4:c.128-227_128-226dup MANE Select	NP_000018.2:n.128-227_128-226dup
NM_001171988.2:c.128-227_128-226dup	NP_001165459.1:n.128-227_128-226dup
NR_033655.2:n.190-227_190-226dup