Canonical Allele Identifier: CA1183923091

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870484_99870488delinsTAGAC , CM000663.2:g.99870484_99870488delinsTAGAC	GRCh38
NC_000001.10:g.100336040_100336044delinsTAGAC , CM000663.1:g.100336040_100336044delinsTAGAC	GRCh37
NC_000001.9:g.100108628_100108632delinsTAGAC	NCBI36
NG_012865.1:g.25401_25405delinsTAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.749_753delinsTAGAC MANE Select	ENSP00000355106.3:p.Leu250=
ENST00000637337.1:n.960_964delinsTAGAC
ENST00000294724.8:c.749_753delinsTAGAC	ENSP00000294724.4:p.Leu250=
ENST00000361302.7:c.701_705delinsTAGAC	ENSP00000354971.3:p.Leu234=
ENST00000361522.4:c.698_702delinsTAGAC	ENSP00000354635.4:p.Leu233=
ENST00000361915.7:c.749_753delinsTAGAC	ENSP00000355106.3:p.Leu250=
ENST00000370161.6:c.701_705delinsTAGAC	ENSP00000359180.2:p.Leu234=
ENST00000370163.7:c.749_753delinsTAGAC	ENSP00000359182.3:p.Leu250=
ENST00000370165.7:c.749_753delinsTAGAC	ENSP00000359184.3:p.Leu250=
NM_000028.2:c.749_753delinsTAGAC	NP_000019.2:p.Leu250=
NM_000642.2:c.749_753delinsTAGAC	NP_000633.2:p.Leu250=
NM_000643.2:c.749_753delinsTAGAC	NP_000634.2:p.Leu250=
NM_000644.2:c.749_753delinsTAGAC	NP_000635.2:p.Leu250=
NM_000645.2:c.698_702delinsTAGAC	NP_000636.2:p.Leu233=
NM_000646.2:c.701_705delinsTAGAC	NP_000637.2:p.Leu234=
XM_005270557.1:c.749_753delinsTAGAC	XP_005270614.1:p.Leu250=
XM_005270557.2:c.749_753delinsTAGAC	XP_005270614.1:p.Leu250=
NM_000642.3:c.749_753delinsTAGAC MANE Select	NP_000633.2:p.Leu250=