Canonical Allele Identifier: CA741027295

Gene: AGL

Linked Data

• dbSNP Id: rs1262832718
• MyVariant Identifiers: chr1:g.100340806del (hg19) ; chr1:g.99875250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875251del , CM000663.2:g.99875251del	GRCh38
NC_000001.10:g.100340807del , CM000663.1:g.100340807del	GRCh37
NC_000001.9:g.100113395del	NCBI36
NG_012865.1:g.30168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.1180del MANE Select	ENSP00000355106.3:p.Glu394AsnfsTer23
ENST00000637337.1:n.1391del
ENST00000294724.8:c.1180del	ENSP00000294724.4:p.Glu394AsnfsTer23
ENST00000361302.7:c.1132del	ENSP00000354971.3:p.Glu378AsnfsTer23
ENST00000361522.4:c.1129del	ENSP00000354635.4:p.Glu377AsnfsTer23
ENST00000361915.7:c.1180del	ENSP00000355106.3:p.Glu394AsnfsTer23
ENST00000370161.6:c.1132del	ENSP00000359180.2:p.Glu378AsnfsTer23
ENST00000370163.7:c.1180del	ENSP00000359182.3:p.Glu394AsnfsTer23
ENST00000370165.7:c.1180del	ENSP00000359184.3:p.Glu394AsnfsTer23
ENST00000477753.1:n.439del
NM_000028.2:c.1180del	NP_000019.2:p.Glu394AsnfsTer23
NM_000642.2:c.1180del	NP_000633.2:p.Glu394AsnfsTer23
NM_000643.2:c.1180del	NP_000634.2:p.Glu394AsnfsTer23
NM_000644.2:c.1180del	NP_000635.2:p.Glu394AsnfsTer23
NM_000645.2:c.1129del	NP_000636.2:p.Glu377AsnfsTer23
NM_000646.2:c.1132del	NP_000637.2:p.Glu378AsnfsTer23
XM_005270557.1:c.1180del	XP_005270614.1:p.Glu394AsnfsTer23
XM_005270557.2:c.1180del	XP_005270614.1:p.Glu394AsnfsTer23
NM_000642.3:c.1180del MANE Select	NP_000633.2:p.Glu394AsnfsTer23