Canonical Allele Identifier: CA2646734593

Gene: AGL

Linked Data

• dbSNP Id: rs2101112469
• gnomAD v4: 1-99870537-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870540_99870541del , CM000663.2:g.99870540_99870541del	GRCh38
NC_000001.10:g.100336096_100336097del , CM000663.1:g.100336096_100336097del	GRCh37
NC_000001.9:g.100108684_100108685del	NCBI36
NG_012865.1:g.25457_25458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.805_806del MANE Select	ENSP00000355106.3:p.Lys269GlyfsTer7
ENST00000637337.1:n.1016_1017del
ENST00000294724.8:c.805_806del	ENSP00000294724.4:p.Lys269GlyfsTer7
ENST00000361302.7:c.757_758del	ENSP00000354971.3:p.Lys253GlyfsTer7
ENST00000361522.4:c.754_755del	ENSP00000354635.4:p.Lys252GlyfsTer7
ENST00000361915.7:c.805_806del	ENSP00000355106.3:p.Lys269GlyfsTer7
ENST00000370161.6:c.757_758del	ENSP00000359180.2:p.Lys253GlyfsTer7
ENST00000370163.7:c.805_806del	ENSP00000359182.3:p.Lys269GlyfsTer7
ENST00000370165.7:c.805_806del	ENSP00000359184.3:p.Lys269GlyfsTer7
NM_000028.2:c.805_806del	NP_000019.2:p.Lys269GlyfsTer7
NM_000642.2:c.805_806del	NP_000633.2:p.Lys269GlyfsTer7
NM_000643.2:c.805_806del	NP_000634.2:p.Lys269GlyfsTer7
NM_000644.2:c.805_806del	NP_000635.2:p.Lys269GlyfsTer7
NM_000645.2:c.754_755del	NP_000636.2:p.Lys252GlyfsTer7
NM_000646.2:c.757_758del	NP_000637.2:p.Lys253GlyfsTer7
XM_005270557.1:c.805_806del	XP_005270614.1:p.Lys269GlyfsTer7
XM_005270557.2:c.805_806del	XP_005270614.1:p.Lys269GlyfsTer7
NM_000642.3:c.805_806del MANE Select	NP_000633.2:p.Lys269GlyfsTer7