Canonical Allele Identifier: CA2672747144

Gene: AGA

Linked Data

• ClinVar Variation Id: 2680768
• ClinVar RCV Id: RCV003468420
• gnomAD v4: 4-177437474-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437475del , CM000666.2:g.177437475del	GRCh38
NC_000004.11:g.178358629del , CM000666.1:g.178358629del	GRCh37
NC_000004.10:g.178595623del	NCBI36
NG_011845.2:g.10029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.552del MANE Select	ENSP00000264595.2:p.Pro185LeufsTer4
ENST00000264595.6:c.552del	ENSP00000264595.2:p.Pro185LeufsTer4
ENST00000502310.5:c.207del	ENSP00000423798.1:p.Pro70LeufsTer4
ENST00000506853.5:n.586del
ENST00000510635.1:c.248del
ENST00000510955.5:n.473del
NM_000027.3:c.552del	NP_000018.2:p.Pro185LeufsTer4
NM_001171988.1:c.552del	NP_001165459.1:p.Pro185LeufsTer4
NR_033655.1:n.680del
XM_006714123.2:c.552del	XP_006714186.1:p.Pro185LeufsTer4
XR_001741155.2:n.646del
NM_000027.4:c.552del MANE Select	NP_000018.2:p.Pro185LeufsTer4
NM_001171988.2:c.552del	NP_001165459.1:p.Pro185LeufsTer4
NR_033655.2:n.614del