Canonical Allele Identifier: CA2744755504
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99870471_99870479del , CM000663.2:g.99870471_99870479del GRCh38
NC_000001.10:g.100336027_100336035del , CM000663.1:g.100336027_100336035del GRCh37
NC_000001.9:g.100108615_100108623del NCBI36
NG_012865.1:g.25388_25396del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.736_744del MANE Select ENSP00000355106.3:p.Pro246_Trp248del
ENST00000637337.1:n.947_955del
ENST00000294724.8:c.736_744del ENSP00000294724.4:p.Pro246_Trp248del
ENST00000361302.7:c.688_696del ENSP00000354971.3:p.Pro230_Trp232del
ENST00000361522.4:c.685_693del ENSP00000354635.4:p.Pro229_Trp231del
ENST00000361915.7:c.736_744del ENSP00000355106.3:p.Pro246_Trp248del
ENST00000370161.6:c.688_696del ENSP00000359180.2:p.Pro230_Trp232del
ENST00000370163.7:c.736_744del ENSP00000359182.3:p.Pro246_Trp248del
ENST00000370165.7:c.736_744del ENSP00000359184.3:p.Pro246_Trp248del
NM_000028.2:c.736_744del NP_000019.2:p.Pro246_Trp248del
NM_000642.2:c.736_744del NP_000633.2:p.Pro246_Trp248del
NM_000643.2:c.736_744del NP_000634.2:p.Pro246_Trp248del
NM_000644.2:c.736_744del NP_000635.2:p.Pro246_Trp248del
NM_000645.2:c.685_693del NP_000636.2:p.Pro229_Trp231del
NM_000646.2:c.688_696del NP_000637.2:p.Pro230_Trp232del
XM_005270557.1:c.736_744del XP_005270614.1:p.Pro246_Trp248del
XM_005270557.2:c.736_744del XP_005270614.1:p.Pro246_Trp248del
NM_000642.3:c.736_744del MANE Select NP_000633.2:p.Pro246_Trp248del