Canonical Allele Identifier: CA2675066075
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126544803del , CM000667.2:g.126544803del GRCh38
NC_000005.9:g.125880495del , CM000667.1:g.125880495del GRCh37
NC_000005.8:g.125908394del NCBI36
NG_008600.2:g.55593del
NG_008600.3:g.55593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.*167del MANE Select ENSP00000387123.3:n.*167del
ENST00000458249.6:c.*1696del ENSP00000403929.1:n.*1696del
ENST00000485852.7:n.534del
ENST00000497231.7:n.2214del
ENST00000635851.1:c.1563+1526del
ENST00000636482.1:n.1321del
ENST00000636743.1:c.*167del ENSP00000489725.1:n.*167del
ENST00000636808.1:c.*1596del ENSP00000490833.1:n.*1596del
ENST00000636872.1:c.1947del ENSP00000490919.1:n.1947del
ENST00000636879.1:c.*167del ENSP00000490811.1:n.*167del
ENST00000636886.1:c.*167del ENSP00000490371.1:n.*167del
ENST00000637206.1:c.*167del ENSP00000489895.1:n.*167del
ENST00000637272.1:c.*167del ENSP00000489686.1:n.*167del
ENST00000637782.1:c.1565+1526del ENSP00000490024.1:n.1565+1526del
ENST00000638010.1:n.1733del
ENST00000409134.7:c.*167del ENSP00000387123.3:n.*167del
ENST00000447989.6:c.*167del ENSP00000414132.2:n.*167del
ENST00000485852.6:n.534del
ENST00000497231.6:n.1997del
ENST00000553117.5:c.*167del ENSP00000448593.1:n.*167del
NM_001182.4:c.*167del NP_001173.2:n.*167del
NM_001201377.1:c.*167del NP_001188306.1:n.*167del
NM_001202404.1:c.*167del NP_001189333.1:n.*167del
XM_011543417.1:c.*167del XP_011541719.1:n.*167del
XM_011543417.2:c.*167del XP_011541719.1:n.*167del
NM_001182.5:c.*167del MANE Select NP_001173.2:n.*167del
NM_001201377.2:c.*167del NP_001188306.1:n.*167del
NM_001202404.2:c.*167del NP_001189333.2:n.*167del