Canonical Allele Identifier: CA2580071741

Gene: AGA

Linked Data

• ClinVar Variation Id: 2008973
• ClinVar RCV Id: RCV002829043

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442368del , CM000666.2:g.177442368del	GRCh38
NC_000004.11:g.178363522del , CM000666.1:g.178363522del	GRCh37
NC_000004.10:g.178600516del	NCBI36
NG_011845.2:g.5137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.9del MANE Select	ENSP00000264595.2:p.Lys4SerfsTer17
ENST00000264595.6:c.9del	ENSP00000264595.2:p.Lys4SerfsTer17
ENST00000506853.5:n.43del
ENST00000510955.5:n.43del
ENST00000511231.1:n.43del
NM_000027.3:c.9del	NP_000018.2:p.Lys4SerfsTer17
NM_001171988.1:c.9del	NP_001165459.1:p.Lys4SerfsTer17
NR_033655.1:n.137del
XM_006714123.2:c.9del	XP_006714186.1:p.Lys4SerfsTer17
XR_001741155.2:n.103del
NM_000027.4:c.9del MANE Select	NP_000018.2:p.Lys4SerfsTer17
NM_001171988.2:c.9del	NP_001165459.1:p.Lys4SerfsTer17
NR_033655.2:n.71del