Canonical Allele Identifier: CA1071330604

Gene: AGA

Linked Data

• ClinVar Variation Id: 1980037
• ClinVar RCV Id: RCV002756325
• dbSNP Id: rs1736926873
• gnomAD v3: 4-177439591-AAAGT-A
• gnomAD v4: 4-177439591-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439592_177439595del , CM000666.2:g.177439592_177439595del	GRCh38
NC_000004.11:g.178360746_178360749del , CM000666.1:g.178360746_178360749del	GRCh37
NC_000004.10:g.178597740_178597743del	NCBI36
NG_011845.2:g.7909_7912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.375_378del MANE Select	ENSP00000264595.2:p.Leu126Ter
ENST00000264595.6:c.375_378del	ENSP00000264595.2:p.Leu126Ter
ENST00000502310.5:c.30_33del	ENSP00000423798.1:p.Leu11Ter
ENST00000506853.5:n.409_412del
ENST00000510635.1:c.71_74del
ENST00000510955.5:n.315+678_315+681del
NM_000027.3:c.375_378del	NP_000018.2:p.Leu126Ter
NM_001171988.1:c.375_378del	NP_001165459.1:p.Leu126Ter
NR_033655.1:n.503_506del
XM_006714123.2:c.375_378del	XP_006714186.1:p.Leu126Ter
XR_001741155.2:n.469_472del
NM_000027.4:c.375_378del MANE Select	NP_000018.2:p.Leu126Ter
NM_001171988.2:c.375_378del	NP_001165459.1:p.Leu126Ter
NR_033655.2:n.437_440del