Canonical Allele Identifier: CA313225
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126549953del , CM000667.2:g.126549953del GRCh38
NC_000005.9:g.125885645del , CM000667.1:g.125885645del GRCh37
NC_000005.8:g.125913544del NCBI36
NG_008600.2:g.50441del
NG_008600.3:g.50441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1468del MANE Select ENSP00000387123.3:p.Ala490LeufsTer28
ENST00000458249.6:c.*1377del ENSP00000403929.1:n.*1377del
ENST00000485852.7:n.215del
ENST00000497231.7:n.1895del
ENST00000635851.1:c.1466del
ENST00000636062.1:n.1363del
ENST00000636225.1:c.*1412del ENSP00000490797.1:n.*1412del
ENST00000636286.1:n.1233del
ENST00000636482.1:n.1002del
ENST00000636743.1:c.1348del ENSP00000489725.1:p.Ala450LeufsTer28
ENST00000636808.1:c.*1277del ENSP00000490833.1:n.*1277del
ENST00000636872.1:c.1628del ENSP00000490919.1:n.1628del
ENST00000636879.1:c.1513del ENSP00000490811.1:p.Ala505LeufsTer28
ENST00000636886.1:c.1267del ENSP00000490371.1:p.Ala423LeufsTer28
ENST00000637206.1:c.1288del ENSP00000489895.1:p.Ala430LeufsTer28
ENST00000637272.1:c.1459del ENSP00000489686.1:p.Ala487LeufsTer28
ENST00000637292.1:c.924del
ENST00000637782.1:c.1468del ENSP00000490024.1:p.Ala490LeufsTer28
ENST00000638008.1:c.*1312del ENSP00000490400.1:n.*1312del
ENST00000638010.1:n.1414del
ENST00000409134.7:c.1468del ENSP00000387123.3:p.Ala490LeufsTer28
ENST00000447989.6:c.1357del ENSP00000414132.2:p.Ala453LeufsTer28
ENST00000476328.1:n.426del
ENST00000485852.6:n.215del
ENST00000497231.6:n.1678del
ENST00000553117.5:c.1276del ENSP00000448593.1:p.Ala426LeufsTer28
NM_001182.4:c.1468del NP_001173.2:p.Ala490LeufsTer28
NM_001201377.1:c.1384del NP_001188306.1:p.Ala462LeufsTer28
NM_001202404.1:c.1357del NP_001189333.1:p.Ala453LeufsTer28
XM_011543417.1:c.1063del XP_011541719.1:p.Ala355LeufsTer28
XM_011543417.2:c.1063del XP_011541719.1:p.Ala355LeufsTer28
NM_001182.5:c.1468del MANE Select NP_001173.2:p.Ala490LeufsTer28
NM_001201377.2:c.1384del NP_001188306.1:p.Ala462LeufsTer28
NM_001202404.2:c.1276del NP_001189333.2:p.Ala426LeufsTer28