Canonical Allele Identifier: CA2672747139

Gene: AGA

Linked Data

• ClinVar Variation Id: 2680754
• ClinVar RCV Id: RCV003468406
• gnomAD v4: 4-177437430-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437432_177437433del , CM000666.2:g.177437432_177437433del	GRCh38
NC_000004.11:g.178358586_178358587del , CM000666.1:g.178358586_178358587del	GRCh37
NC_000004.10:g.178595580_178595581del	NCBI36
NG_011845.2:g.10072_10073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.595_596del MANE Select	ENSP00000264595.2:p.Glu199ArgfsTer2
ENST00000264595.6:c.595_596del	ENSP00000264595.2:p.Glu199ArgfsTer2
ENST00000502310.5:c.250_251del	ENSP00000423798.1:p.Glu84ArgfsTer2
ENST00000506853.5:n.629_630del
ENST00000510635.1:c.291_292del
ENST00000510955.5:n.516_517del
NM_000027.3:c.595_596del	NP_000018.2:p.Glu199ArgfsTer2
NM_001171988.1:c.595_596del	NP_001165459.1:p.Glu199ArgfsTer2
NR_033655.1:n.723_724del
XM_006714123.2:c.595_596del	XP_006714186.1:p.Glu199ArgfsTer2
XR_001741155.2:n.689_690del
NM_000027.4:c.595_596del MANE Select	NP_000018.2:p.Glu199ArgfsTer2
NM_001171988.2:c.595_596del	NP_001165459.1:p.Glu199ArgfsTer2
NR_033655.2:n.657_658del