Canonical Allele Identifier: CA1580462736

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126594917_126594918delinsAG , CM000667.2:g.126594917_126594918delinsAG	GRCh38
NC_000005.9:g.125930609_125930610delinsAG , CM000667.1:g.125930609_125930610delinsAG	GRCh37
NC_000005.8:g.125958508_125958509delinsAG	NCBI36
NG_008600.2:g.5473_5474delinsCT
NG_008600.3:g.5473_5474delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.192+89_192+90delinsCT MANE Select	ENSP00000387123.3:n.192+89_192+90delinsCT
ENST00000412186.2:c.192+89_192+90delinsCT	ENSP00000414536.2:n.192+89_192+90delinsCT
ENST00000413020.6:c.192+89_192+90delinsCT	ENSP00000487936.1:n.192+89_192+90delinsCT
ENST00000458249.6:c.192+89_192+90delinsCT	ENSP00000403929.1:n.192+89_192+90delinsCT
ENST00000503281.6:c.106+89_106+90delinsCT
ENST00000509270.2:c.192+89_192+90delinsCT	ENSP00000449318.2:n.192+89_192+90delinsCT
ENST00000509459.6:c.65+89_65+90delinsCT
ENST00000635851.1:c.190+89_190+90delinsCT
ENST00000635933.1:n.221+89_221+90delinsCT
ENST00000636062.1:n.87+89_87+90delinsCT
ENST00000636190.1:n.71+89_71+90delinsCT
ENST00000636225.1:c.192+89_192+90delinsCT	ENSP00000490797.1:n.192+89_192+90delinsCT
ENST00000636743.1:c.192+89_192+90delinsCT	ENSP00000489725.1:n.192+89_192+90delinsCT
ENST00000636808.1:c.192+89_192+90delinsCT	ENSP00000490833.1:n.192+89_192+90delinsCT
ENST00000636872.1:c.192+89_192+90delinsCT	ENSP00000490919.1:n.192+89_192+90delinsCT
ENST00000636879.1:c.192+89_192+90delinsCT	ENSP00000490811.1:n.192+89_192+90delinsCT
ENST00000636886.1:c.192+89_192+90delinsCT	ENSP00000490371.1:n.192+89_192+90delinsCT
ENST00000637206.1:c.192+89_192+90delinsCT	ENSP00000489895.1:n.192+89_192+90delinsCT
ENST00000637272.1:c.192+89_192+90delinsCT	ENSP00000489686.1:n.192+89_192+90delinsCT
ENST00000637782.1:c.192+89_192+90delinsCT	ENSP00000490024.1:n.192+89_192+90delinsCT
ENST00000637964.1:c.192+89_192+90delinsCT	ENSP00000490291.1:n.192+89_192+90delinsCT
ENST00000638008.1:c.192+89_192+90delinsCT	ENSP00000490400.1:n.192+89_192+90delinsCT
ENST00000409134.7:c.192+89_192+90delinsCT	ENSP00000387123.3:n.192+89_192+90delinsCT
ENST00000412186.1:c.192+89_192+90delinsCT	ENSP00000414536.1:n.192+89_192+90delinsCT
ENST00000413020.5:c.192+89_192+90delinsCT	ENSP00000487936.1:n.192+89_192+90delinsCT
ENST00000447989.6:c.273+89_273+90delinsCT	ENSP00000414132.2:n.273+89_273+90delinsCT
ENST00000458249.5:c.192+89_192+90delinsCT	ENSP00000403929.1:n.192+89_192+90delinsCT
ENST00000503281.5:c.106+89_106+90delinsCT
ENST00000509270.1:c.192+89_192+90delinsCT	ENSP00000449318.1:n.192+89_192+90delinsCT
ENST00000509459.5:c.65+89_65+90delinsCT
ENST00000510111.6:c.186+89_186+90delinsCT	ENSP00000447388.1:n.186+89_186+90delinsCT
ENST00000511266.5:n.147+89_147+90delinsCT
ENST00000553117.5:c.192+89_192+90delinsCT	ENSP00000448593.1:n.192+89_192+90delinsCT
NM_001182.4:c.192+89_192+90delinsCT	NP_001173.2:n.192+89_192+90delinsCT
NM_001201377.1:c.108+89_108+90delinsCT	NP_001188306.1:n.108+89_108+90delinsCT
NM_001202404.1:c.273+89_273+90delinsCT	NP_001189333.1:n.273+89_273+90delinsCT
NM_001182.5:c.192+89_192+90delinsCT MANE Select	NP_001173.2:n.192+89_192+90delinsCT
NM_001201377.2:c.108+89_108+90delinsCT	NP_001188306.1:n.108+89_108+90delinsCT
NM_001202404.2:c.192+89_192+90delinsCT	NP_001189333.2:n.192+89_192+90delinsCT