Canonical Allele Identifier: CA2675059627

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126595010_126595011del , CM000667.2:g.126595010_126595011del	GRCh38
NC_000005.9:g.125930702_125930703del , CM000667.1:g.125930702_125930703del	GRCh37
NC_000005.8:g.125958601_125958602del	NCBI36
NG_008600.2:g.5383_5384del
NG_008600.3:g.5383_5384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.191_192del MANE Select	ENSP00000387123.3:p.Glu64GlyfsTer9
ENST00000412186.2:c.191_192del	ENSP00000414536.2:p.Glu64GlyfsTer9
ENST00000413020.6:c.191_192del	ENSP00000487936.1:p.Glu64GlyfsTer9
ENST00000458249.6:c.191_192del	ENSP00000403929.1:p.Glu64ValfsTer21
ENST00000503281.6:c.105_106del
ENST00000509270.2:c.191_192del	ENSP00000449318.2:p.Glu64GlyfsTer9
ENST00000509459.6:c.64_65del
ENST00000635851.1:c.189_190del
ENST00000635933.1:n.220_221del
ENST00000636062.1:n.86_87del
ENST00000636190.1:n.70_71del
ENST00000636225.1:c.191_192del	ENSP00000490797.1:p.Glu64GlyfsTer28
ENST00000636743.1:c.191_192del	ENSP00000489725.1:p.Glu64AspfsTer?
ENST00000636808.1:c.191_192del	ENSP00000490833.1:p.Glu64GlyfsTer28
ENST00000636872.1:c.191_192del	ENSP00000490919.1:p.Glu64ValfsTer21
ENST00000636879.1:c.191_192del	ENSP00000490811.1:p.Glu64GlyfsTer9
ENST00000636886.1:c.191_192del	ENSP00000490371.1:p.Glu64GlyfsTer15
ENST00000637206.1:c.191_192del	ENSP00000489895.1:p.Glu64GlyfsTer9
ENST00000637272.1:c.191_192del	ENSP00000489686.1:p.Glu64GlyfsTer9
ENST00000637782.1:c.191_192del	ENSP00000490024.1:p.Glu64GlyfsTer9
ENST00000637964.1:c.191_192del	ENSP00000490291.1:p.Glu64GlyfsTer7
ENST00000638008.1:c.191_192del	ENSP00000490400.1:p.Glu64GlyfsTer28
ENST00000409134.7:c.191_192del	ENSP00000387123.3:p.Glu64GlyfsTer9
ENST00000412186.1:c.191_192del	ENSP00000414536.1:p.Glu64GlyfsTer28
ENST00000413020.5:c.191_192del	ENSP00000487936.1:p.Glu64GlyfsTer9
ENST00000447989.6:c.272_273del	ENSP00000414132.2:p.Glu91GlyfsTer9
ENST00000458249.5:c.191_192del	ENSP00000403929.1:p.Glu64ValfsTer21
ENST00000503281.5:c.105_106del
ENST00000509270.1:c.191_192del	ENSP00000449318.1:p.Glu64AspfsTer?
ENST00000509459.5:c.64_65del
ENST00000510111.6:c.185_186del	ENSP00000447388.1:p.Glu62GlyfsTer9
ENST00000511266.5:n.146_147del
ENST00000553117.5:c.191_192del	ENSP00000448593.1:p.Glu64GlyfsTer9
NM_001182.4:c.191_192del	NP_001173.2:p.Glu64GlyfsTer9
NM_001201377.1:c.107_108del	NP_001188306.1:p.Glu36GlyfsTer9
NM_001202404.1:c.272_273del	NP_001189333.1:p.Glu91GlyfsTer9
NM_001182.5:c.191_192del MANE Select	NP_001173.2:p.Glu64GlyfsTer9
NM_001201377.2:c.107_108del	NP_001188306.1:p.Glu36GlyfsTer9
NM_001202404.2:c.191_192del	NP_001189333.2:p.Glu64GlyfsTer9