Canonical Allele Identifier: CA2574444632

Gene: AGL

Linked Data

• ClinVar Variation Id: 2440246
• ClinVar RCV Id: RCV003145146
• gnomAD v4: 1-99896321-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99896325del , CM000663.2:g.99896325del	GRCh38
NC_000001.10:g.100361881del , CM000663.1:g.100361881del	GRCh37
NC_000001.9:g.100134469del	NCBI36
NG_012865.1:g.51242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3299del MANE Select	ENSP00000355106.3:p.Gly1100GlufsTer13
ENST00000637337.1:n.3510del
ENST00000294724.8:c.3299del	ENSP00000294724.4:p.Gly1100GlufsTer13
ENST00000361302.7:c.3251del	ENSP00000354971.3:p.Gly1084GlufsTer13
ENST00000361522.4:c.3248del	ENSP00000354635.4:p.Gly1083GlufsTer13
ENST00000361915.7:c.3299del	ENSP00000355106.3:p.Gly1100GlufsTer13
ENST00000370161.6:c.3251del	ENSP00000359180.2:p.Gly1084GlufsTer13
ENST00000370163.7:c.3299del	ENSP00000359182.3:p.Gly1100GlufsTer13
ENST00000370165.7:c.3299del	ENSP00000359184.3:p.Gly1100GlufsTer13
NM_000028.2:c.3299del	NP_000019.2:p.Gly1100GlufsTer13
NM_000642.2:c.3299del	NP_000633.2:p.Gly1100GlufsTer13
NM_000643.2:c.3299del	NP_000634.2:p.Gly1100GlufsTer13
NM_000644.2:c.3299del	NP_000635.2:p.Gly1100GlufsTer13
NM_000645.2:c.3248del	NP_000636.2:p.Gly1083GlufsTer13
NM_000646.2:c.3251del	NP_000637.2:p.Gly1084GlufsTer13
XM_005270557.1:c.3299del	XP_005270614.1:p.Gly1100GlufsTer13
XM_005270557.2:c.3299del	XP_005270614.1:p.Gly1100GlufsTer13
XM_017000501.2:c.1559del	XP_016855990.1:p.Gly520GlufsTer13
NM_000642.3:c.3299del MANE Select	NP_000633.2:p.Gly1100GlufsTer13