Canonical Allele Identifier: CA2646737625

Gene: AGL

Linked Data

• gnomAD v4: 1-99891729-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891731_99891732del , CM000663.2:g.99891731_99891732del	GRCh38
NC_000001.10:g.100357287_100357288del , CM000663.1:g.100357287_100357288del	GRCh37
NC_000001.9:g.100129875_100129876del	NCBI36
NG_012865.1:g.46648_46649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3075_3076del MANE Select	ENSP00000355106.3:p.Gln1025HisfsTer?
ENST00000637337.1:n.3286_3287del
ENST00000294724.8:c.3075_3076del	ENSP00000294724.4:p.Gln1025HisfsTer?
ENST00000361302.7:c.3027_3028del	ENSP00000354971.3:p.Gln1009HisfsTer?
ENST00000361522.4:c.3024_3025del	ENSP00000354635.4:p.Gln1008HisfsTer?
ENST00000361915.7:c.3075_3076del	ENSP00000355106.3:p.Gln1025HisfsTer?
ENST00000370161.6:c.3027_3028del	ENSP00000359180.2:p.Gln1009HisfsTer?
ENST00000370163.7:c.3075_3076del	ENSP00000359182.3:p.Gln1025HisfsTer?
ENST00000370165.7:c.3075_3076del	ENSP00000359184.3:p.Gln1025HisfsTer?
NM_000028.2:c.3075_3076del	NP_000019.2:p.Gln1025HisfsTer?
NM_000642.2:c.3075_3076del	NP_000633.2:p.Gln1025HisfsTer?
NM_000643.2:c.3075_3076del	NP_000634.2:p.Gln1025HisfsTer?
NM_000644.2:c.3075_3076del	NP_000635.2:p.Gln1025HisfsTer?
NM_000645.2:c.3024_3025del	NP_000636.2:p.Gln1008HisfsTer?
NM_000646.2:c.3027_3028del	NP_000637.2:p.Gln1009HisfsTer?
XM_005270557.1:c.3075_3076del	XP_005270614.1:p.Gln1025HisfsTer?
XM_005270557.2:c.3075_3076del	XP_005270614.1:p.Gln1025HisfsTer?
XM_017000501.2:c.1335_1336del	XP_016855990.1:p.Gln445HisfsTer?
NM_000642.3:c.3075_3076del MANE Select	NP_000633.2:p.Gln1025HisfsTer?