Canonical Allele Identifier: CA916082668

Gene: AGA

Linked Data

• ClinVar Variation Id: 835340
• ClinVar RCV Id: RCV001036199
• dbSNP Id: rs1736861131

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437469_177437472del , CM000666.2:g.177437469_177437472del	GRCh38
NC_000004.11:g.178358623_178358626del , CM000666.1:g.178358623_178358626del	GRCh37
NC_000004.10:g.178595617_178595620del	NCBI36
NG_011845.2:g.10032_10035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.555_558del MANE Select	ENSP00000264595.2:p.Gly186SerfsTer2
ENST00000264595.6:c.555_558del	ENSP00000264595.2:p.Gly186SerfsTer2
ENST00000502310.5:c.210_213del	ENSP00000423798.1:p.Gly71SerfsTer2
ENST00000506853.5:n.589_592del
ENST00000510635.1:c.251_254del
ENST00000510955.5:n.476_479del
NM_000027.3:c.555_558del	NP_000018.2:p.Gly186SerfsTer2
NM_001171988.1:c.555_558del	NP_001165459.1:p.Gly186SerfsTer2
NR_033655.1:n.683_686del
XM_006714123.2:c.555_558del	XP_006714186.1:p.Gly186SerfsTer2
XR_001741155.2:n.649_652del
NM_000027.4:c.555_558del MANE Select	NP_000018.2:p.Gly186SerfsTer2
NM_001171988.2:c.555_558del	NP_001165459.1:p.Gly186SerfsTer2
NR_033655.2:n.617_620del