Canonical Allele Identifier: CA2573132737

Gene: AGL

Linked Data

• ClinVar Variation Id: 1546442
• ClinVar RCV Id: RCV002174902
• dbSNP Id: rs2101084456

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99861510_99861511delinsAT , CM000663.2:g.99861510_99861511delinsAT	GRCh38
NC_000001.10:g.100327066_100327067delinsAT , CM000663.1:g.100327066_100327067delinsAT	GRCh37
NC_000001.9:g.100099654_100099655delinsAT	NCBI36
NG_012865.1:g.16427_16428delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.90_91delinsAT MANE Select	ENSP00000355106.3:p.Glu30=
ENST00000637337.1:n.301_302delinsAT
ENST00000294724.8:c.90_91delinsAT	ENSP00000294724.4:p.Glu30=
ENST00000361302.7:c.42_43delinsAT	ENSP00000354971.3:p.Glu14=
ENST00000361522.4:c.39_40delinsAT	ENSP00000354635.4:p.Glu13=
ENST00000361915.7:c.90_91delinsAT	ENSP00000355106.3:p.Glu30=
ENST00000370161.6:c.42_43delinsAT	ENSP00000359180.2:p.Glu14=
ENST00000370163.7:c.90_91delinsAT	ENSP00000359182.3:p.Glu30=
ENST00000370165.7:c.90_91delinsAT	ENSP00000359184.3:p.Glu30=
NM_000028.2:c.90_91delinsAT	NP_000019.2:p.Glu30=
NM_000642.2:c.90_91delinsAT	NP_000633.2:p.Glu30=
NM_000643.2:c.90_91delinsAT	NP_000634.2:p.Glu30=
NM_000644.2:c.90_91delinsAT	NP_000635.2:p.Glu30=
NM_000645.2:c.39_40delinsAT	NP_000636.2:p.Glu13=
NM_000646.2:c.42_43delinsAT	NP_000637.2:p.Glu14=
XM_005270557.1:c.90_91delinsAT	XP_005270614.1:p.Glu30=
XM_005270557.2:c.90_91delinsAT	XP_005270614.1:p.Glu30=
NM_000642.3:c.90_91delinsAT MANE Select	NP_000633.2:p.Glu30=