Canonical Allele Identifier: CA313241

Gene: ALDH7A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592690_126592691insC , CM000667.2:g.126592690_126592691insC	GRCh38
NC_000005.9:g.125928382_125928383insC , CM000667.1:g.125928382_125928383insC	GRCh37
NC_000005.8:g.125956281_125956282insC	NCBI36
NG_008600.2:g.7700_7701insG
NG_008600.3:g.7700_7701insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.285_286insG MANE Select	ENSP00000387123.3:p.Arg96GlufsTer?
ENST00000412186.2:c.285_286insG	ENSP00000414536.2:p.Arg96GlufsTer?
ENST00000413020.6:c.285_286insG	ENSP00000487936.1:p.Arg96GlufsTer?
ENST00000458249.6:c.*194_*195insG	ENSP00000403929.1:n.*194_*195insG
ENST00000479989.6:n.468_469insG
ENST00000503281.6:c.106+2316_106+2317insG
ENST00000509270.2:c.246+660_246+661insG	ENSP00000449318.2:n.246+660_246+661insG
ENST00000509459.6:c.65+2316_65+2317insG
ENST00000511266.6:n.1007_1008insG
ENST00000635851.1:c.283_284insG
ENST00000635858.1:n.124_125insG
ENST00000635933.1:n.314_315insG
ENST00000636062.1:n.180_181insG
ENST00000636190.1:n.164_165insG
ENST00000636225.1:c.*94_*95insG	ENSP00000490797.1:n.*94_*95insG
ENST00000636743.1:c.192+2316_192+2317insG	ENSP00000489725.1:n.192+2316_192+2317insG
ENST00000636808.1:c.*94_*95insG	ENSP00000490833.1:n.*94_*95insG
ENST00000636872.1:c.445_446insG	ENSP00000490919.1:n.445_446insG
ENST00000636879.1:c.285_286insG	ENSP00000490811.1:p.Arg96GlufsTer?
ENST00000636886.1:c.192+2316_192+2317insG	ENSP00000490371.1:n.192+2316_192+2317insG
ENST00000637206.1:c.285_286insG	ENSP00000489895.1:p.Arg96GlufsTer?
ENST00000637272.1:c.285_286insG	ENSP00000489686.1:p.Arg96GlufsTer?
ENST00000637782.1:c.285_286insG	ENSP00000490024.1:p.Arg96GlufsTer?
ENST00000637964.1:c.231_232insG	ENSP00000490291.1:p.Arg78GlufsTer?
ENST00000638008.1:c.*94_*95insG	ENSP00000490400.1:n.*94_*95insG
ENST00000409134.7:c.285_286insG	ENSP00000387123.3:p.Arg96GlufsTer?
ENST00000412186.1:c.*94_*95insG	ENSP00000414536.1:n.*94_*95insG
ENST00000413020.5:c.285_286insG	ENSP00000487936.1:p.Arg96GlufsTer?
ENST00000447989.6:c.366_367insG	ENSP00000414132.2:p.Arg123GlufsTer?
ENST00000458249.5:c.445_446insG	ENSP00000403929.1:n.445_446insG
ENST00000479989.5:n.468_469insG
ENST00000503281.5:c.106+2316_106+2317insG
ENST00000509270.1:c.192+2316_192+2317insG	ENSP00000449318.1:n.192+2316_192+2317insG
ENST00000509459.5:c.65+2316_65+2317insG
ENST00000510111.6:c.279_280insG	ENSP00000447388.1:p.Arg94GlufsTer24
ENST00000511266.5:n.240_241insG
ENST00000553117.5:c.285_286insG	ENSP00000448593.1:p.Arg96GlufsTer?
NM_001182.4:c.285_286insG	NP_001173.2:p.Arg96GlufsTer?
NM_001201377.1:c.201_202insG	NP_001188306.1:p.Arg68GlufsTer?
NM_001202404.1:c.366_367insG	NP_001189333.1:p.Arg123GlufsTer?
XM_011543417.1:c.-121_-120insG	XP_011541719.1:n.-121_-120insG
XM_011543417.2:c.-121_-120insG	XP_011541719.1:n.-121_-120insG
NM_001182.5:c.285_286insG MANE Select	NP_001173.2:p.Arg96GlufsTer?
NM_001201377.2:c.201_202insG	NP_001188306.1:p.Arg68GlufsTer?
NM_001202404.2:c.285_286insG	NP_001189333.2:p.Arg96GlufsTer?