Canonical Allele Identifier: CA1425931035

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245150_184245151delinsAT , CM000665.2:g.184245150_184245151delinsAT GRCh38
NC_000003.11:g.183962938_183962939delinsAT , CM000665.1:g.183962938_183962939delinsAT GRCh37
NC_000003.10:g.185445632_185445633delinsAT NCBI36
NG_008924.2:g.9362_9363delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.605+47_605+48delinsAT (ALG3) MANE Select ENSP00000380793.3:n.605+47_605+48delinsAT
ENST00000397676.7:c.605+47_605+48delinsAT (ALG3) ENSP00000380793.3:n.605+47_605+48delinsAT
ENST00000411922.5:c.*181+47_*181+48delinsAT (ALG3) ENSP00000394917.1:n.*181+47_*181+48delinsAT
ENST00000414845.5:c.337+317_337+318delinsAT (ALG3)
ENST00000423996.5:c.*370+47_*370+48delinsAT (ALG3) ENSP00000407011.1:n.*370+47_*370+48delinsAT
ENST00000444495.1:c.2106+100443_2106+100444delinsAT (EIF2B5) ENSP00000409142.1:n.2106+100443_2106+100444delinsAT
ENST00000445626.6:c.461+47_461+48delinsAT (ALG3) ENSP00000402744.2:n.461+47_461+48delinsAT
ENST00000446569.1:c.315+47_315+48delinsAT (ALG3)
ENST00000455059.5:c.485+47_485+48delinsAT (ALG3) ENSP00000397613.1:n.485+47_485+48delinsAT
ENST00000461415.5:n.625_626delinsAT (ALG3)
ENST00000477959.1:n.145+47_145+48delinsAT (ALG3)
ENST00000482048.1:n.641_642delinsAT (ALG3)
ENST00000488976.5:n.537_538delinsAT (ALG3)
NM_001006941.2:c.461+47_461+48delinsAT (ALG3) NP_001006942.1:n.461+47_461+48delinsAT
NM_005787.5:c.605+47_605+48delinsAT (ALG3) NP_005778.1:n.605+47_605+48delinsAT
NR_024533.1:n.536+47_536+48delinsAT (ALG3)
NR_024534.1:n.599+47_599+48delinsAT (ALG3)
XM_011512322.1:c.506+47_506+48delinsAT (ALG3) XP_011510624.1:n.506+47_506+48delinsAT
XM_011512323.1:c.485+47_485+48delinsAT (ALG3) XP_011510625.1:n.485+47_485+48delinsAT
XM_011512323.2:c.485+47_485+48delinsAT (ALG3) XP_011510625.1:n.485+47_485+48delinsAT
XM_024453296.1:c.383+47_383+48delinsAT (ALG3) XP_024309064.1:n.383+47_383+48delinsAT
NM_005787.6:c.605+47_605+48delinsAT (ALG3) MANE Select NP_005778.1:n.605+47_605+48delinsAT