Canonical Allele Identifier: CA2580072496
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1929376
ClinVar RCV Id: RCV002635323

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126545005_126545009del , CM000667.2:g.126545005_126545009del GRCh38
NC_000005.9:g.125880697_125880701del , CM000667.1:g.125880697_125880701del GRCh37
NC_000005.8:g.125908596_125908600del NCBI36
NG_008600.2:g.55384_55388del
NG_008600.3:g.55384_55388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1578_1582del MANE Select ENSP00000387123.3:p.Tyr526Ter
ENST00000458249.6:c.*1487_*1491del ENSP00000403929.1:n.*1487_*1491del
ENST00000485852.7:n.325_329del
ENST00000497231.7:n.2005_2009del
ENST00000635851.1:c.1563+1317_1563+1321del
ENST00000636286.1:n.1343_1347del
ENST00000636482.1:n.1112_1116del
ENST00000636743.1:c.1458_1462del ENSP00000489725.1:p.Tyr486Ter
ENST00000636808.1:c.*1387_*1391del ENSP00000490833.1:n.*1387_*1391del
ENST00000636872.1:c.1738_1742del ENSP00000490919.1:n.1738_1742del
ENST00000636879.1:c.1623_1627del ENSP00000490811.1:p.Tyr541Ter
ENST00000636886.1:c.1377_1381del ENSP00000490371.1:p.Tyr459Ter
ENST00000637206.1:c.1398_1402del ENSP00000489895.1:p.Tyr466Ter
ENST00000637272.1:c.1569_1573del ENSP00000489686.1:p.Tyr523Ter
ENST00000637292.1:c.1034_1038del
ENST00000637782.1:c.1565+1317_1565+1321del ENSP00000490024.1:n.1565+1317_1565+1321del
ENST00000638008.1:c.*1422_*1426del ENSP00000490400.1:n.*1422_*1426del
ENST00000638010.1:n.1524_1528del
ENST00000409134.7:c.1578_1582del ENSP00000387123.3:p.Tyr526Ter
ENST00000447989.6:c.1467_1471del ENSP00000414132.2:p.Tyr489Ter
ENST00000485852.6:n.325_329del
ENST00000497231.6:n.1788_1792del
ENST00000553117.5:c.1386_1390del ENSP00000448593.1:p.Tyr462Ter
NM_001182.4:c.1578_1582del NP_001173.2:p.Tyr526Ter
NM_001201377.1:c.1494_1498del NP_001188306.1:p.Tyr498Ter
NM_001202404.1:c.1467_1471del NP_001189333.1:p.Tyr489Ter
XM_011543417.1:c.1173_1177del XP_011541719.1:p.Tyr391Ter
XM_011543417.2:c.1173_1177del XP_011541719.1:p.Tyr391Ter
NM_001182.5:c.1578_1582del MANE Select NP_001173.2:p.Tyr526Ter
NM_001201377.2:c.1494_1498del NP_001188306.1:p.Tyr498Ter
NM_001202404.2:c.1386_1390del NP_001189333.2:p.Tyr462Ter