Canonical Allele Identifier: CA2672747827

Gene: AGA

Linked Data

• gnomAD v4: 4-177439593-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439602_177439603dup , CM000666.2:g.177439602_177439603dup	GRCh38
NC_000004.11:g.178360756_178360757dup , CM000666.1:g.178360756_178360757dup	GRCh37
NC_000004.10:g.178597750_178597751dup	NCBI36
NG_011845.2:g.7909_7910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.375_376dup MANE Select	ENSP00000264595.2:p.Leu126HisfsTer3
ENST00000264595.6:c.375_376dup	ENSP00000264595.2:p.Leu126HisfsTer3
ENST00000502310.5:c.30_31dup	ENSP00000423798.1:p.Leu11HisfsTer3
ENST00000506853.5:n.409_410dup
ENST00000510635.1:c.71_72dup
ENST00000510955.5:n.315+678_315+679dup
NM_000027.3:c.375_376dup	NP_000018.2:p.Leu126HisfsTer3
NM_001171988.1:c.375_376dup	NP_001165459.1:p.Leu126HisfsTer3
NR_033655.1:n.503_504dup
XM_006714123.2:c.375_376dup	XP_006714186.1:p.Leu126HisfsTer3
XR_001741155.2:n.469_470dup
NM_000027.4:c.375_376dup MANE Select	NP_000018.2:p.Leu126HisfsTer3
NM_001171988.2:c.375_376dup	NP_001165459.1:p.Leu126HisfsTer3
NR_033655.2:n.437_438dup