Canonical Allele Identifier: CA1580455132

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577035_126577036delinsAT , CM000667.2:g.126577035_126577036delinsAT	GRCh38
NC_000005.9:g.125912727_125912728delinsAT , CM000667.1:g.125912727_125912728delinsAT	GRCh37
NC_000005.8:g.125940626_125940627delinsAT	NCBI36
NG_008600.2:g.23355_23356delinsAT
NG_008600.3:g.23355_23356delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.650+43_650+44delinsAT MANE Select	ENSP00000387123.3:n.650+43_650+44delinsAT
ENST00000412186.2:c.526+43_526+44delinsAT	ENSP00000414536.2:n.526+43_526+44delinsAT
ENST00000413020.6:c.650+43_650+44delinsAT	ENSP00000487936.1:n.650+43_650+44delinsAT
ENST00000458249.6:c.*559+43_*559+44delinsAT	ENSP00000403929.1:n.*559+43_*559+44delinsAT
ENST00000503281.6:c.239+43_239+44delinsAT
ENST00000509459.6:c.198+43_198+44delinsAT
ENST00000511266.6:n.1372+43_1372+44delinsAT
ENST00000635851.1:c.648+43_648+44delinsAT
ENST00000636062.1:n.545+43_545+44delinsAT
ENST00000636225.1:c.*459+43_*459+44delinsAT	ENSP00000490797.1:n.*459+43_*459+44delinsAT
ENST00000636286.1:n.368+43_368+44delinsAT
ENST00000636743.1:c.530+43_530+44delinsAT	ENSP00000489725.1:n.530+43_530+44delinsAT
ENST00000636808.1:c.*459+43_*459+44delinsAT	ENSP00000490833.1:n.*459+43_*459+44delinsAT
ENST00000636872.1:c.810+43_810+44delinsAT	ENSP00000490919.1:n.810+43_810+44delinsAT
ENST00000636879.1:c.695+43_695+44delinsAT	ENSP00000490811.1:n.695+43_695+44delinsAT
ENST00000636886.1:c.449+43_449+44delinsAT	ENSP00000490371.1:n.449+43_449+44delinsAT
ENST00000637206.1:c.650+43_650+44delinsAT	ENSP00000489895.1:n.650+43_650+44delinsAT
ENST00000637272.1:c.650+43_650+44delinsAT	ENSP00000489686.1:n.650+43_650+44delinsAT
ENST00000637292.1:c.303+43_303+44delinsAT
ENST00000637782.1:c.650+43_650+44delinsAT	ENSP00000490024.1:n.650+43_650+44delinsAT
ENST00000637964.1:c.596+43_596+44delinsAT	ENSP00000490291.1:n.596+43_596+44delinsAT
ENST00000638008.1:c.*592+43_*592+44delinsAT	ENSP00000490400.1:n.*592+43_*592+44delinsAT
ENST00000409134.7:c.650+43_650+44delinsAT	ENSP00000387123.3:n.650+43_650+44delinsAT
ENST00000413020.5:c.650+43_650+44delinsAT	ENSP00000487936.1:n.650+43_650+44delinsAT
ENST00000433026.5:n.177+43_177+44delinsAT
ENST00000447989.6:c.731+43_731+44delinsAT	ENSP00000414132.2:n.731+43_731+44delinsAT
ENST00000458249.5:c.810+43_810+44delinsAT	ENSP00000403929.1:n.810+43_810+44delinsAT
ENST00000503281.5:c.239+43_239+44delinsAT
ENST00000509459.5:c.198+43_198+44delinsAT
ENST00000510111.6:c.563+43_563+44delinsAT	ENSP00000447388.1:n.563+43_563+44delinsAT
ENST00000511266.5:n.481+43_481+44delinsAT
ENST00000553117.5:c.650+43_650+44delinsAT	ENSP00000448593.1:n.650+43_650+44delinsAT
NM_001182.4:c.650+43_650+44delinsAT	NP_001173.2:n.650+43_650+44delinsAT
NM_001201377.1:c.566+43_566+44delinsAT	NP_001188306.1:n.566+43_566+44delinsAT
NM_001202404.1:c.731+43_731+44delinsAT	NP_001189333.1:n.731+43_731+44delinsAT
XM_011543417.1:c.245+43_245+44delinsAT	XP_011541719.1:n.245+43_245+44delinsAT
XM_011543417.2:c.245+43_245+44delinsAT	XP_011541719.1:n.245+43_245+44delinsAT
NM_001182.5:c.650+43_650+44delinsAT MANE Select	NP_001173.2:n.650+43_650+44delinsAT
NM_001201377.2:c.566+43_566+44delinsAT	NP_001188306.1:n.566+43_566+44delinsAT
NM_001202404.2:c.650+43_650+44delinsAT	NP_001189333.2:n.650+43_650+44delinsAT