Canonical Allele Identifier: CA2646736197

Gene: AGL

Linked Data

• gnomAD v4: 1-99881296-CAGTGGTTTCTGAAGAACGGTTTTACACTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881302_99881330del , CM000663.2:g.99881302_99881330del	GRCh38
NC_000001.10:g.100346858_100346886del , CM000663.1:g.100346858_100346886del	GRCh37
NC_000001.9:g.100119446_100119474del	NCBI36
NG_012865.1:g.36219_36247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.2012_2040del MANE Select	ENSP00000355106.3:p.Val671GlufsTer3
ENST00000637337.1:n.2223_2251del
ENST00000294724.8:c.2012_2040del	ENSP00000294724.4:p.Val671GlufsTer3
ENST00000361302.7:c.1964_1992del	ENSP00000354971.3:p.Val655GlufsTer3
ENST00000361522.4:c.1961_1989del	ENSP00000354635.4:p.Val654GlufsTer3
ENST00000361915.7:c.2012_2040del	ENSP00000355106.3:p.Val671GlufsTer3
ENST00000370161.6:c.1964_1992del	ENSP00000359180.2:p.Val655GlufsTer3
ENST00000370163.7:c.2012_2040del	ENSP00000359182.3:p.Val671GlufsTer3
ENST00000370165.7:c.2012_2040del	ENSP00000359184.3:p.Val671GlufsTer3
NM_000028.2:c.2012_2040del	NP_000019.2:p.Val671GlufsTer3
NM_000642.2:c.2012_2040del	NP_000633.2:p.Val671GlufsTer3
NM_000643.2:c.2012_2040del	NP_000634.2:p.Val671GlufsTer3
NM_000644.2:c.2012_2040del	NP_000635.2:p.Val671GlufsTer3
NM_000645.2:c.1961_1989del	NP_000636.2:p.Val654GlufsTer3
NM_000646.2:c.1964_1992del	NP_000637.2:p.Val655GlufsTer3
XM_005270557.1:c.2012_2040del	XP_005270614.1:p.Val671GlufsTer3
XM_005270557.2:c.2012_2040del	XP_005270614.1:p.Val671GlufsTer3
XM_017000501.2:c.272_300del	XP_016855990.1:p.Val91GlufsTer3
NM_000642.3:c.2012_2040del MANE Select	NP_000633.2:p.Val671GlufsTer3