Canonical Allele Identifier: CA1139656243

Gene: AGL

Linked Data

• ClinVar Variation Id: 939081
• ClinVar RCV Id: RCV001208412
• dbSNP Id: rs1651548991

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99876549_99876552del , CM000663.2:g.99876549_99876552del	GRCh38
NC_000001.10:g.100342105_100342108del , CM000663.1:g.100342105_100342108del	GRCh37
NC_000001.9:g.100114693_100114696del	NCBI36
NG_012865.1:g.31466_31469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1375_1378del MANE Select	ENSP00000355106.3:p.Asn459AspfsTer3
ENST00000637337.1:n.1586_1589del
ENST00000294724.8:c.1375_1378del	ENSP00000294724.4:p.Asn459AspfsTer3
ENST00000361302.7:c.1327_1330del	ENSP00000354971.3:p.Asn443AspfsTer3
ENST00000361522.4:c.1324_1327del	ENSP00000354635.4:p.Asn442AspfsTer3
ENST00000361915.7:c.1375_1378del	ENSP00000355106.3:p.Asn459AspfsTer3
ENST00000370161.6:c.1327_1330del	ENSP00000359180.2:p.Asn443AspfsTer3
ENST00000370163.7:c.1375_1378del	ENSP00000359182.3:p.Asn459AspfsTer3
ENST00000370165.7:c.1375_1378del	ENSP00000359184.3:p.Asn459AspfsTer3
ENST00000477753.1:n.634_637del
NM_000028.2:c.1375_1378del	NP_000019.2:p.Asn459AspfsTer3
NM_000642.2:c.1375_1378del	NP_000633.2:p.Asn459AspfsTer3
NM_000643.2:c.1375_1378del	NP_000634.2:p.Asn459AspfsTer3
NM_000644.2:c.1375_1378del	NP_000635.2:p.Asn459AspfsTer3
NM_000645.2:c.1324_1327del	NP_000636.2:p.Asn442AspfsTer3
NM_000646.2:c.1327_1330del	NP_000637.2:p.Asn443AspfsTer3
XM_005270557.1:c.1375_1378del	XP_005270614.1:p.Asn459AspfsTer3
XM_005270557.2:c.1375_1378del	XP_005270614.1:p.Asn459AspfsTer3
NM_000642.3:c.1375_1378del MANE Select	NP_000633.2:p.Asn459AspfsTer3