Canonical Allele Identifier: CA16040846
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371009
ClinVar RCV Id: RCV000410186

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99910827_99910828del , CM000663.2:g.99910827_99910828del GRCh38
NC_000001.10:g.100376383_100376384del , CM000663.1:g.100376383_100376384del GRCh37
NC_000001.9:g.100148971_100148972del NCBI36
NG_012865.1:g.65744_65745del

Transcript Alleles

HGVS Amino-acid change
NM_000028.2:c.3816_3817del VV NP_000019.2:p.Gly1273AsnfsTer18
NM_000642.2:c.3816_3817del VV NP_000633.2:p.Gly1273AsnfsTer18
NM_000643.2:c.3816_3817del VV NP_000634.2:p.Gly1273AsnfsTer18
NM_000644.2:c.3816_3817del VV NP_000635.2:p.Gly1273AsnfsTer18
NM_000645.2:c.3765_3766del VV NP_000636.2:p.Gly1256AsnfsTer18
NM_000646.2:c.3768_3769del VV NP_000637.2:p.Gly1257AsnfsTer18
XM_005270557.1:c.3816_3817del XP_005270614.1:p.Gly1273AsnfsTer18
XM_005270557.2:c.3816_3817del XP_005270614.1:p.Gly1273AsnfsTer18
XM_017000501.2:c.2076_2077del XP_016855990.1:p.Gly693AsnfsTer18
NM_000642.3:c.3816_3817del VV MANE Preferred NP_000633.2:p.Gly1273AsnfsTer18
ENST00000294724.8:c.3816_3817del ENSP00000294724.4:p.Gly1273AsnfsTer18
ENST00000361302.7:c.3768_3769del ENSP00000354971.3:p.Gly1257AsnfsTer18
ENST00000361522.4:c.3765_3766del ENSP00000354635.4:p.Gly1256AsnfsTer18
ENST00000361915.7:c.3816_3817del ENSP00000355106.3:p.Gly1273AsnfsTer18
ENST00000370161.6:n.3768_3769del ENSP00000359180.2:p.Gly1257AsnfsTer18
ENST00000370163.7:c.3816_3817del ENSP00000359182.3:p.Gly1273AsnfsTer18
ENST00000370165.7:c.3816_3817del ENSP00000359184.3:p.Gly1273AsnfsTer18