Canonical Allele Identifier: CA2574444291
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99864492_99864495del , CM000663.2:g.99864492_99864495del GRCh38
NC_000001.10:g.100330048_100330051del , CM000663.1:g.100330048_100330051del GRCh37
NC_000001.9:g.100102636_100102639del NCBI36
NG_012865.1:g.19409_19412del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.567_570del MANE Select ENSP00000355106.3:p.Asn189LysfsTer11
ENST00000637337.1:n.778_781del
ENST00000294724.8:c.567_570del ENSP00000294724.4:p.Asn189LysfsTer11
ENST00000361302.7:c.519_522del ENSP00000354971.3:p.Asn173LysfsTer11
ENST00000361522.4:c.516_519del ENSP00000354635.4:p.Asn172LysfsTer11
ENST00000361915.7:c.567_570del ENSP00000355106.3:p.Asn189LysfsTer11
ENST00000370161.6:c.519_522del ENSP00000359180.2:p.Asn173LysfsTer11
ENST00000370163.7:c.567_570del ENSP00000359182.3:p.Asn189LysfsTer11
ENST00000370165.7:c.567_570del ENSP00000359184.3:p.Asn189LysfsTer11
NM_000028.2:c.567_570del NP_000019.2:p.Asn189LysfsTer11
NM_000642.2:c.567_570del NP_000633.2:p.Asn189LysfsTer11
NM_000643.2:c.567_570del NP_000634.2:p.Asn189LysfsTer11
NM_000644.2:c.567_570del NP_000635.2:p.Asn189LysfsTer11
NM_000645.2:c.516_519del NP_000636.2:p.Asn172LysfsTer11
NM_000646.2:c.519_522del NP_000637.2:p.Asn173LysfsTer11
XM_005270557.1:c.567_570del XP_005270614.1:p.Asn189LysfsTer11
XM_005270557.2:c.567_570del XP_005270614.1:p.Asn189LysfsTer11
NM_000642.3:c.567_570del MANE Select NP_000633.2:p.Asn189LysfsTer11