Canonical Allele Identifier: CA2574444490

Gene: AGL

Linked Data

• ClinVar Variation Id: 2800659
• ClinVar RCV Id: RCV003634489
• gnomAD v4: 1-99891341-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891343del , CM000663.2:g.99891343del	GRCh38
NC_000001.10:g.100356899del , CM000663.1:g.100356899del	GRCh37
NC_000001.9:g.100129487del	NCBI36
NG_012865.1:g.46260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.2936del MANE Select	ENSP00000355106.3:p.Gly979GlufsTer17
ENST00000637337.1:n.3147del
ENST00000294724.8:c.2936del	ENSP00000294724.4:p.Gly979GlufsTer17
ENST00000361302.7:c.2888del	ENSP00000354971.3:p.Gly963GlufsTer17
ENST00000361522.4:c.2885del	ENSP00000354635.4:p.Gly962GlufsTer17
ENST00000361915.7:c.2936del	ENSP00000355106.3:p.Gly979GlufsTer17
ENST00000370161.6:c.2888del	ENSP00000359180.2:p.Gly963GlufsTer17
ENST00000370163.7:c.2936del	ENSP00000359182.3:p.Gly979GlufsTer17
ENST00000370165.7:c.2936del	ENSP00000359184.3:p.Gly979GlufsTer17
NM_000028.2:c.2936del	NP_000019.2:p.Gly979GlufsTer17
NM_000642.2:c.2936del	NP_000633.2:p.Gly979GlufsTer17
NM_000643.2:c.2936del	NP_000634.2:p.Gly979GlufsTer17
NM_000644.2:c.2936del	NP_000635.2:p.Gly979GlufsTer17
NM_000645.2:c.2885del	NP_000636.2:p.Gly962GlufsTer17
NM_000646.2:c.2888del	NP_000637.2:p.Gly963GlufsTer17
XM_005270557.1:c.2936del	XP_005270614.1:p.Gly979GlufsTer17
XM_005270557.2:c.2936del	XP_005270614.1:p.Gly979GlufsTer17
XM_017000501.2:c.1196del	XP_016855990.1:p.Gly399GlufsTer17
NM_000642.3:c.2936del MANE Select	NP_000633.2:p.Gly979GlufsTer17