Canonical Allele Identifier: CA2578238512

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438830_177438831del , CM000666.2:g.177438830_177438831del	GRCh38
NC_000004.11:g.178359984_178359985del , CM000666.1:g.178359984_178359985del	GRCh37
NC_000004.10:g.178596978_178596979del	NCBI36
NG_011845.2:g.8674_8675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.422_423del MANE Select	ENSP00000264595.2:p.Phe141TyrfsTer3
ENST00000264595.6:c.422_423del	ENSP00000264595.2:p.Phe141TyrfsTer3
ENST00000502310.5:c.77_78del	ENSP00000423798.1:p.Phe26TyrfsTer3
ENST00000506853.5:n.456_457del
ENST00000510635.1:c.118_119del
ENST00000510955.5:n.343_344del
NM_000027.3:c.422_423del	NP_000018.2:p.Phe141TyrfsTer3
NM_001171988.1:c.422_423del	NP_001165459.1:p.Phe141TyrfsTer3
NR_033655.1:n.550_551del
XM_006714123.2:c.422_423del	XP_006714186.1:p.Phe141TyrfsTer3
XR_001741155.2:n.516_517del
NM_000027.4:c.422_423del MANE Select	NP_000018.2:p.Phe141TyrfsTer3
NM_001171988.2:c.422_423del	NP_001165459.1:p.Phe141TyrfsTer3
NR_033655.2:n.484_485del