Canonical Allele Identifier: CA917576192
Gene: ALDH7A1 HGNC NCBI

Linked Data

dbSNP Id: rs1561646484

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546239_126546240del , CM000667.2:g.126546239_126546240del GRCh38
NC_000005.9:g.125881931_125881932del , CM000667.1:g.125881931_125881932del GRCh37
NC_000005.8:g.125909830_125909831del NCBI36
NG_008600.2:g.54152_54153del
NG_008600.3:g.54152_54153del

Transcript Alleles

HGVS Amino-acid change
ENST00000409134.8:c.1565+85_1565+86del MANE Select ENSP00000387123.3:n.1565+85_1565+86del
ENST00000458249.6:c.*1474+85_*1474+86del ENSP00000403929.1:n.*1474+85_*1474+86del
ENST00000485852.7:n.312+85_312+86del
ENST00000497231.7:n.1992+85_1992+86del
ENST00000635851.1:c.1563+85_1563+86del
ENST00000636286.1:n.1330+85_1330+86del
ENST00000636482.1:n.1099+85_1099+86del
ENST00000636743.1:c.1445+85_1445+86del ENSP00000489725.1:n.1445+85_1445+86del
ENST00000636808.1:c.*1374+85_*1374+86del ENSP00000490833.1:n.*1374+85_*1374+86del
ENST00000636872.1:c.1725+85_1725+86del ENSP00000490919.1:n.1725+85_1725+86del
ENST00000636879.1:c.1610+85_1610+86del ENSP00000490811.1:n.1610+85_1610+86del
ENST00000636886.1:c.1364+85_1364+86del ENSP00000490371.1:n.1364+85_1364+86del
ENST00000637206.1:c.1385+85_1385+86del ENSP00000489895.1:n.1385+85_1385+86del
ENST00000637272.1:c.1556+85_1556+86del ENSP00000489686.1:n.1556+85_1556+86del
ENST00000637292.1:c.1021+85_1021+86del
ENST00000637782.1:c.1565+85_1565+86del ENSP00000490024.1:n.1565+85_1565+86del
ENST00000638008.1:c.*1409+85_*1409+86del ENSP00000490400.1:n.*1409+85_*1409+86del
ENST00000638010.1:n.1511+85_1511+86del
ENST00000409134.7:c.1565+85_1565+86del ENSP00000387123.3:n.1565+85_1565+86del
ENST00000447989.6:c.1454+85_1454+86del ENSP00000414132.2:n.1454+85_1454+86del
ENST00000485852.6:n.312+85_312+86del
ENST00000497231.6:n.1775+85_1775+86del
ENST00000553117.5:c.1373+85_1373+86del ENSP00000448593.1:n.1373+85_1373+86del
NM_001182.4:c.1565+85_1565+86del NP_001173.2:n.1565+85_1565+86del
NM_001201377.1:c.1481+85_1481+86del NP_001188306.1:n.1481+85_1481+86del
NM_001202404.1:c.1454+85_1454+86del NP_001189333.1:n.1454+85_1454+86del
XM_011543417.1:c.1160+85_1160+86del XP_011541719.1:n.1160+85_1160+86del
XM_011543417.2:c.1160+85_1160+86del XP_011541719.1:n.1160+85_1160+86del
NM_001182.5:c.1565+85_1565+86del MANE Select NP_001173.2:n.1565+85_1565+86del
NM_001201377.2:c.1481+85_1481+86del NP_001188306.1:n.1481+85_1481+86del
NM_001202404.2:c.1373+85_1373+86del NP_001189333.2:n.1373+85_1373+86del