Canonical Allele Identifier: CA1183926509

Gene: AGL

Linked Data

• ClinVar Variation Id: 1072797
• ClinVar RCV Id: RCV001385608
• dbSNP Id: rs1650336680
• gnomAD v4: 1-99864505-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99864507del , CM000663.2:g.99864507del	GRCh38
NC_000001.10:g.100330063del , CM000663.1:g.100330063del	GRCh37
NC_000001.9:g.100102651del	NCBI36
NG_012865.1:g.19424del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.582del MANE Select	ENSP00000355106.3:p.Trp194Ter
ENST00000637337.1:n.793del
ENST00000294724.8:c.582del	ENSP00000294724.4:p.Trp194Ter
ENST00000361302.7:c.534del	ENSP00000354971.3:p.Trp178Ter
ENST00000361522.4:c.531del	ENSP00000354635.4:p.Trp177Ter
ENST00000361915.7:c.582del	ENSP00000355106.3:p.Trp194Ter
ENST00000370161.6:c.534del	ENSP00000359180.2:p.Trp178Ter
ENST00000370163.7:c.582del	ENSP00000359182.3:p.Trp194Ter
ENST00000370165.7:c.582del	ENSP00000359184.3:p.Trp194Ter
NM_000028.2:c.582del	NP_000019.2:p.Trp194Ter
NM_000642.2:c.582del	NP_000633.2:p.Trp194Ter
NM_000643.2:c.582del	NP_000634.2:p.Trp194Ter
NM_000644.2:c.582del	NP_000635.2:p.Trp194Ter
NM_000645.2:c.531del	NP_000636.2:p.Trp177Ter
NM_000646.2:c.534del	NP_000637.2:p.Trp178Ter
XM_005270557.1:c.582del	XP_005270614.1:p.Trp194Ter
XM_005270557.2:c.582del	XP_005270614.1:p.Trp194Ter
NM_000642.3:c.582del MANE Select	NP_000633.2:p.Trp194Ter