Canonical Allele Identifier: CA2573132632

Gene: AGL

Linked Data

• ClinVar Variation Id: 1408109
• ClinVar RCV Id: RCV001909801
• dbSNP Id: rs2100849251

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910788_99910789delinsAC , CM000663.2:g.99910788_99910789delinsAC	GRCh38
NC_000001.10:g.100376344_100376345delinsAC , CM000663.1:g.100376344_100376345delinsAC	GRCh37
NC_000001.9:g.100148932_100148933delinsAC	NCBI36
NG_012865.1:g.65705_65706delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3777_3778delinsAC MANE Select	ENSP00000355106.3:p.Trp1259Ter
ENST00000637337.1:n.3988_3989delinsAC
ENST00000294724.8:c.3777_3778delinsAC	ENSP00000294724.4:p.Trp1259Ter
ENST00000361302.7:c.3729_3730delinsAC	ENSP00000354971.3:p.Trp1243Ter
ENST00000361522.4:c.3726_3727delinsAC	ENSP00000354635.4:p.Trp1242Ter
ENST00000361915.7:c.3777_3778delinsAC	ENSP00000355106.3:p.Trp1259Ter
ENST00000370161.6:c.3729_3730delinsAC	ENSP00000359180.2:p.Trp1243Ter
ENST00000370163.7:c.3777_3778delinsAC	ENSP00000359182.3:p.Trp1259Ter
ENST00000370165.7:c.3777_3778delinsAC	ENSP00000359184.3:p.Trp1259Ter
NM_000028.2:c.3777_3778delinsAC	NP_000019.2:p.Trp1259Ter
NM_000642.2:c.3777_3778delinsAC	NP_000633.2:p.Trp1259Ter
NM_000643.2:c.3777_3778delinsAC	NP_000634.2:p.Trp1259Ter
NM_000644.2:c.3777_3778delinsAC	NP_000635.2:p.Trp1259Ter
NM_000645.2:c.3726_3727delinsAC	NP_000636.2:p.Trp1242Ter
NM_000646.2:c.3729_3730delinsAC	NP_000637.2:p.Trp1243Ter
XM_005270557.1:c.3777_3778delinsAC	XP_005270614.1:p.Trp1259Ter
XM_005270557.2:c.3777_3778delinsAC	XP_005270614.1:p.Trp1259Ter
XM_017000501.2:c.2037_2038delinsAC	XP_016855990.1:p.Trp679Ter
NM_000642.3:c.3777_3778delinsAC MANE Select	NP_000633.2:p.Trp1259Ter