Canonical Allele Identifier: CA280409683
Community Standard Title: NM_001243177.4(ALDOA):c.487-143_487-138del
Gene: ALDOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30068503_30068508del , CM000678.2:g.30068503_30068508del GRCh38
NC_000016.9:g.30079824_30079829del , CM000678.1:g.30079824_30079829del GRCh37
NC_000016.8:g.29987325_29987330del NCBI36
NG_008010.1:g.20334_20339del

Transcript Alleles

HGVS Amino-acid Change
NM_001243177.4:c.487-143_487-138del MANE Select NP_001230106.1:n.487-143_487-138del
ENST00000642816.3:c.487-143_487-138del MANE Select ENSP00000496166.1:n.487-143_487-138del
NM_000034.3:c.325-143_325-138del NP_000025.1:n.325-143_325-138del
NM_001127617.2:c.325-143_325-138del NP_001121089.1:n.325-143_325-138del
NM_001243177.1:c.487-143_487-138del NP_001230106.1:n.487-143_487-138del
NM_001243177.2:c.487-143_487-138del NP_001230106.1:n.487-143_487-138del
NM_001243177.3:c.487-143_487-138del NP_001230106.1:n.487-143_487-138del
NM_001365304.1:c.*834-143_*834-138del NP_001352233.1:n.*834-143_*834-138del
NM_001365304.2:c.*834-143_*834-138del NP_001352233.1:n.*834-143_*834-138del
NM_001365305.1:c.*834-143_*834-138del NP_001352234.1:n.*834-143_*834-138del
NM_001365305.2:c.*834-143_*834-138del NP_001352234.1:n.*834-143_*834-138del
NM_001365307.1:c.*834-143_*834-138del NP_001352236.1:n.*834-143_*834-138del
NM_001365307.2:c.*834-143_*834-138del NP_001352236.1:n.*834-143_*834-138del
NM_184041.2:c.325-143_325-138del NP_908930.1:n.325-143_325-138del
NM_184041.3:c.325-143_325-138del NP_908930.1:n.325-143_325-138del
NM_184041.4:c.325-143_325-138del NP_908930.1:n.325-143_325-138del
NM_184041.5:c.325-143_325-138del NP_908930.1:n.325-143_325-138del
NM_184043.2:c.325-143_325-138del NP_908932.1:n.325-143_325-138del
ENST00000338110.10:c.*834-143_*834-138del ENSP00000336927.6:n.*834-143_*834-138del
ENST00000338110.11:c.*834-143_*834-138del ENSP00000336927.6:n.*834-143_*834-138del
ENST00000338110.9:c.325-143_325-138del ENSP00000336927.5:n.325-143_325-138del
ENST00000395240.7:c.325-143_325-138del ENSP00000378661.3:n.325-143_325-138del
ENST00000395248.5:c.487-143_487-138del ENSP00000378669.1:n.487-143_487-138del
ENST00000395248.6:c.*507-143_*507-138del ENSP00000378669.2:n.*507-143_*507-138del
ENST00000412304.6:c.325-143_325-138del ENSP00000400452.2:n.325-143_325-138del
ENST00000562168.5:c.292-143_292-138del ENSP00000456020.1:n.292-143_292-138del
ENST00000562679.5:c.487-143_487-138del ENSP00000455455.1:n.487-143_487-138del
ENST00000563060.6:c.325-143_325-138del ENSP00000455800.2:n.325-143_325-138del
ENST00000563987.5:c.325-143_325-138del ENSP00000457643.1:n.325-143_325-138del
ENST00000564521.6:n.1259_1264del
ENST00000564546.5:c.325-143_325-138del ENSP00000455917.1:n.325-143_325-138del
ENST00000564595.6:c.487-143_487-138del ENSP00000457468.2:n.487-143_487-138del
ENST00000564688.1:c.160-143_160-138del ENSP00000457514.1:n.160-143_160-138del
ENST00000566846.5:c.292-143_292-138del ENSP00000454499.1:n.292-143_292-138del
ENST00000566897.5:c.325-143_325-138del ENSP00000455724.1:n.325-143_325-138del
ENST00000566897.6:c.*834-143_*834-138del ENSP00000455724.2:n.*834-143_*834-138del
ENST00000569545.5:c.325-143_325-138del ENSP00000455700.1:n.325-143_325-138del
ENST00000569798.5:c.325-143_325-138del ENSP00000455857.1:n.325-143_325-138del
ENST00000627059.2:c.325-143_325-138del ENSP00000485952.1:n.325-143_325-138del
ENST00000643777.4:c.325-143_325-138del ENSP00000494188.2:n.325-143_325-138del
XM_011545767.1:c.325-143_325-138del XP_011544069.1:n.325-143_325-138del
XM_011545768.1:c.325-143_325-138del XP_011544070.1:n.325-143_325-138del
XM_024450192.1:c.325-143_325-138del XP_024305960.1:n.325-143_325-138del
XM_024450193.1:c.325-143_325-138del XP_024305961.1:n.325-143_325-138del