Canonical Allele Identifier: CA2586967006

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891701_99891704dup , CM000663.2:g.99891701_99891704dup	GRCh38
NC_000001.10:g.100357257_100357260dup , CM000663.1:g.100357257_100357260dup	GRCh37
NC_000001.9:g.100129845_100129848dup	NCBI36
NG_012865.1:g.46618_46621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3045_3048dup MANE Select	ENSP00000355106.3:p.Thr1017TyrfsTer?
ENST00000637337.1:n.3256_3259dup
ENST00000294724.8:c.3045_3048dup	ENSP00000294724.4:p.Thr1017TyrfsTer?
ENST00000361302.7:c.2997_3000dup	ENSP00000354971.3:p.Thr1001TyrfsTer?
ENST00000361522.4:c.2994_2997dup	ENSP00000354635.4:p.Thr1000TyrfsTer?
ENST00000361915.7:c.3045_3048dup	ENSP00000355106.3:p.Thr1017TyrfsTer?
ENST00000370161.6:c.2997_3000dup	ENSP00000359180.2:p.Thr1001TyrfsTer?
ENST00000370163.7:c.3045_3048dup	ENSP00000359182.3:p.Thr1017TyrfsTer?
ENST00000370165.7:c.3045_3048dup	ENSP00000359184.3:p.Thr1017TyrfsTer?
NM_000028.2:c.3045_3048dup	NP_000019.2:p.Thr1017TyrfsTer?
NM_000642.2:c.3045_3048dup	NP_000633.2:p.Thr1017TyrfsTer?
NM_000643.2:c.3045_3048dup	NP_000634.2:p.Thr1017TyrfsTer?
NM_000644.2:c.3045_3048dup	NP_000635.2:p.Thr1017TyrfsTer?
NM_000645.2:c.2994_2997dup	NP_000636.2:p.Thr1000TyrfsTer?
NM_000646.2:c.2997_3000dup	NP_000637.2:p.Thr1001TyrfsTer?
XM_005270557.1:c.3045_3048dup	XP_005270614.1:p.Thr1017TyrfsTer?
XM_005270557.2:c.3045_3048dup	XP_005270614.1:p.Thr1017TyrfsTer?
XM_017000501.2:c.1305_1308dup	XP_016855990.1:p.Thr437TyrfsTer?
NM_000642.3:c.3045_3048dup MANE Select	NP_000633.2:p.Thr1017TyrfsTer?